Gene: G6pc MGI:95607

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

glucose-6-phosphatase, catalytic

Synonyms:

Glc-6-Pase-alpha, G6Pase, Glc-6-Pase, G6pt

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 G6pc 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 G6pc (1 diseases)
Human diseases predicted to be associated with G6pc (845 diseases)

The table below shows human diseases associated to G6pc by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Glycogen Storage Disease Ia		Hyperuricemia, Short stature, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transam...	OMIM:232200

The table below shows human diseases predicted to be associated to G6pc by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy...	OMIM:232700
Glycogen Storage Disease Ixa1	Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hepatomegaly, Hyperchol...	OMIM:306000
Glycogen Storage Disease Ixb	Hyperuricemia, Short stature, Increased hepatic glycogen content, Hypoglycemia, Growth delay, Hep...	OMIM:261750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Seizure, Short stature, Hypoglycemia, Hyperlipidemia	ORPHA:364
Acid-Labile Subunit Deficiency	Delayed puberty, Reduced insulin like growth factor binding protein acid labile subunit concentra...	OMIM:615961
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia, Short stature	ORPHA:366
Hyperinsulinism Due To Insr Deficiency	Seizure, Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia,...	ORPHA:263458
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ...	OMIM:613027
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, ...	OMIM:614480
Neutral Lipid Storage Disease With Myopathy	Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,...	OMIM:610717
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Splenomegaly, Hepatomegaly	OMIM:619175
Glycogen Storage Disease Ia	Hyperuricemia, Short stature, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transam...	OMIM:232200
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Cirrhosis, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin...	OMIM:604367
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca...	OMIM:613092
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Short sta...	OMIM:619868
Lipodystrophy, Congenital Generalized, Type 3	Short stature, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepa...	OMIM:612526
Hyperinsulinism Due To Glucokinase Deficiency	Hypoketotic hypoglycemia, Seizure, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recu...	ORPHA:79299
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperuricemia, Seizure, Decreased plasma carnitine, Myoclonus, Increased level of 3-hydroxy-3-met...	OMIM:246450
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia, Seizure	ORPHA:35701
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts	OMIM:609886
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Increased LDL cholesterol conce...	OMIM:615703
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Short stature, Renal cyst, Nephropathy, Elevated circulating creatinine concentrat...	OMIM:617056
3-Methylglutaconic Aciduria Type 1	3-Methylglutaconic aciduria, Seizure, Hepatomegaly, Hypoglycemia	ORPHA:67046
Short Stature Due To Partial Ghr Deficiency	Delayed puberty, Hypoglycemia, Growth delay, Short stature	ORPHA:314802
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Abnormal localization of kidney, Prol...	ORPHA:446
Hemochromatosis, Neonatal	Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec...	OMIM:231100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Short stature, Abnormality of the kidney, Elevated hepatic transamin...	ORPHA:369
Phosphoserine Phosphatase Deficiency	Seizure, Hyposerinemia, Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
Hyperinsulinism-Hyperammonemia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure, Increased urine alpha-ketoglu...	ORPHA:35878
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia, Pituitary dwarfism, Severe postnatal growth retardation, Short stature	OMIM:262700
Coronary Artery Disease, Autosomal Dominant 2	Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H...	OMIM:610947
Glycogen Storage Disease Ib	Hyperuricemia, Short stature, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated h...	OMIM:232220
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Cirrhosis, Hepatic failure, Seizure, Decreased circulating ceruloplasmin co...	OMIM:616828
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Severe short stature, Hypoglycemia, Intrauterine growth retardation	OMIM:223500
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,...	ORPHA:71212
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism, Insulin-resistant diabetes m...	ORPHA:436182
Growth Hormone Insensitivity Syndrome	Short stature, Type II diabetes mellitus, Insulin resistance, Hypoplasia of penis, Diabetes melli...	ORPHA:181393
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ...	OMIM:610021
Encephalopathy, Progressive, With Or Without Lipodystrophy	Myoclonus, Hypertriglyceridemia, Seizure, Hepatomegaly	OMIM:615924
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Fructose And Galactose Intolerance	Hypoglycemia, Seizure	OMIM:229500
Short Stature Due To Ghsr Deficiency	Delayed puberty, Hypoglycemia, Growth delay, Short stature	ORPHA:314811
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Renal steatosis, Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp...	OMIM:615158
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Seizure, Neonatal hypoglycemia	OMIM:240900
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobinuria, Nonketotic hypoglyc...	OMIM:201475
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Seizure, Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decrease...	OMIM:617093
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered finger, Tapered toe, Renal dysplasia, Elbow flexion contracture, Elevated hepatic transam...	OMIM:608836
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Postprandial hyperglycemia, Seizure, Neonatal hypoglycemia	OMIM:240600
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Hepatic steatosis,...	ORPHA:79083
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ...	OMIM:619902
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hepatocellular carcinoma, Hepatomegaly, Elevated circulating alanine aminotran...	ORPHA:2088
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos...	OMIM:616829
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Hypoglycemi...	OMIM:231530
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,...	OMIM:617610
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:144600
Fructose-1,6-Bisphosphatase Deficiency	Hyperuricemia, Hyperalaninemia, Seizure, Elevated hepatic transaminase, Neonatal hypoglycemia, In...	ORPHA:348
Propionic Acidemia	Organic aciduria, Hypoglycemia, Hyperammonemia, Hepatomegaly	ORPHA:35
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat...	OMIM:162000
Cholesteryl Ester Storage Disease	Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S...	ORPHA:75234
Glycosylphosphatidylinositol Biosynthesis Defect 17	Growth delay, Hypertriglyceridemia, Seizure	OMIM:618010
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl...	OMIM:608709
Glycogen Storage Disease Iii	Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kin...	OMIM:232400
African Iron Overload	Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio...	ORPHA:139507
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Short stature, Postnatal growth retardation	OMIM:616113
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Seizure, Ketotic hypoglycemia, Ketonuria, Glycosuria, Short stature, Elevated hepatic transaminas...	ORPHA:2089
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic t...	OMIM:616026
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr...	ORPHA:324575
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Seizure, Hepatocellular necrosis, Depletion of mitochondria...	OMIM:251880
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Seizure, Ketotic hypoglycemia, Hepatic steatosi...	ORPHA:26792
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis	OMIM:246650
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Multiple Acyl-Coa Dehydrogenase Deficiency	Proximal tubulopathy, Renal cortical cysts, Wide anterior fontanel, Glycosuria, Polycystic kidney...	OMIM:231680
Mitochondrial Pyruvate Carrier Deficiency	Seizure, Organic aciduria, Hypoglycemia, Increased serum pyruvate, Hepatomegaly	OMIM:614741
Lesch-Nyhan Syndrome	Renal insufficiency, Hyperuricemia, Hematuria	ORPHA:510
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu...	OMIM:255120
Alstrom Syndrome	Tubulointerstitial nephritis, Hyperinsulinemia, Hyperuricemia, Short stature, Chronic active hepa...	OMIM:203800
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Biliary tract abnormality, Multiple glomerular cysts, Nephrolithia...	OMIM:137920
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr...	OMIM:619048
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Hyperuricemia, Seizure, Hypercholesterolemia	ORPHA:77296
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Hereditary Fructose Intolerance	Hyperuricemia, Seizure, Jaundice, Hypophosphatemia, Chronic hepatic failure, Hypermagnesemia, Rea...	ORPHA:469
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Abnormal circulating selenium concentration, Growth delay, Short stature	ORPHA:171706
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Gout, Increas...	OMIM:232800
Niemann-Pick Disease, Type B	Short stature, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, ...	OMIM:607616
Hypoglycemia, Leucine-Induced	Hypoglycemia, Seizure, Hyperinsulinemic hypoglycemia	OMIM:240800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, He...	ORPHA:79259
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Uric acid nephrolithiasis, Hyperuricemia, Seizure, Acute kidney injury, Dysuria, Nephropathy, Mac...	ORPHA:79233
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype...	OMIM:619386
Pyruvate Carboxylase Deficiency	Hyperalaninemia, Seizure, Proximal renal tubular acidosis, Hypoglycemia, Increased serum pyruvate...	OMIM:266150
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Galactokinase Deficiency	Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Seizure, Hepatosple...	ORPHA:79237
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Wide anterior fontanel, Seizure, Polycystic kid...	ORPHA:26791
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Im...	OMIM:261680
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Hemophagocytic Lymphohistiocytosis, Familial, 4	Seizure, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridem...	OMIM:603552
Distal 16P11.2 Microdeletion Syndrome	Vesicoureteral reflux, Hyperuricemia, Seizure, Abnormality of the kidney, Renal agenesis, Protein...	ORPHA:261222
Xanthinuria, Type Ii	Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,...	OMIM:603592
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu...	OMIM:603860
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N...	ORPHA:293964
Lipodystrophy, Familial Partial, Type 1	Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly...	OMIM:608600
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,...	ORPHA:276556
Nephronophthisis 16	Patent ductus arteriosus, Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, P...	OMIM:615382
Glycine N-Methyltransferase Deficiency	Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Glycogen Storage Disease V	Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Dihydrolipoamide Dehydrogenase Deficiency	Seizure, Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Dec...	OMIM:246900
Hemochromatosis, Type 4	Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet...	OMIM:606069
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Seizure, Elevated hepatic transaminase, Elevated circulating creatine k...	OMIM:600649
Fish-Eye Disease	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Glycogen Storage Disease Ic	Chronic pancreatitis, Hyperuricemia, Hematuria, Hepatocellular carcinoma, Hepatoblastoma, Gout, H...	OMIM:232240
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyperuricemia, Renal salt wasting, Diabetes mellitus, Increased blood urea nitrogen, Polyuria, Hy...	OMIM:613845
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly	ORPHA:664
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas, Abnormality of ...	ORPHA:93111
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free...	ORPHA:276575
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Argininosuccinic aciduria, Elevated circulating alanine aminotransferase concen...	OMIM:603471
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Cirrhosis, Seizure, Myoclonus, Insulin resistance, Status epilepticus, Hepatic ...	ORPHA:363400
2P21 Microdeletion Syndrome	Seizure, Cystinuria, Hypoglycemia, Growth delay, Hypocalcemia, Nephrolithiasis	ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hepatic steatosis, Increased blood urea nitrogen, Hypoglycemia, Hepatomegaly, El...	OMIM:617872
Acquired Partial Lipodystrophy	Glomerulopathy, Seizure, Insulin resistance, Hepatic steatosis, Proteinuria, Microscopic hematuria	ORPHA:79087
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Renal tubular acidosis, Seizure, Elevated hepatic transaminase, Transient hyperl...	ORPHA:156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Renal tubular atrophy, Hyperuricemia, Stage 5 chronic kidney diseas...	OMIM:174000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Status ...	ORPHA:276580
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration	ORPHA:6
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia	ORPHA:543
Pyruvate Dehydrogenase E3 Deficiency	Hepatic failure, Seizure, Increased urine alpha-ketoglutarate concentration, Decreased plasma car...	ORPHA:2394
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steat...	ORPHA:280356
Laron Syndrome	Short toe, Abnormality of the elbow, Hypoplasia of penis, Brachydactyly, Severe short stature, Hy...	ORPHA:633
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Glycerol Kinase Deficiency	Seizure, Short stature, Increased urinary glycerol, Hypoglycemia, Growth delay, Hypertriglyceridemia	OMIM:307030
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn...	ORPHA:567548
Combined Malonic And Methylmalonic Acidemia	Generalized clonic seizure, Seizure, Methylmalonic acidemia, Dicarboxylic aciduria, Dicarboxylic ...	ORPHA:289504
Cholestasis, Progressive Familial Intrahepatic, 11	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:619874
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase, Hammertoe	OMIM:618400
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Splenomegaly, Hepatomegaly	OMIM:615285
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus	OMIM:613877
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia	ORPHA:71529
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac...	OMIM:615160
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid...	ORPHA:411536
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Cirrhosis, Hyperuricemia, Seizure, Glycosuria, Hyp...	OMIM:229600
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hepat...	ORPHA:79085
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat...	OMIM:605814
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Beta-Ketothiolase Deficiency	Hyperuricemia, Seizure, Ketonuria, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperglycemia	ORPHA:134
Hyperuricemia, Hprt-Related	Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Seizure, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot ...	OMIM:617575
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ...	ORPHA:33402
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Seizure, Hypercholesterolemia	OMIM:607250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	3-Methylglutaconic aciduria, Short stature, Elevated circulating creatine kinase concentration, H...	OMIM:618120
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Seizure, Ketonuria, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transamina...	ORPHA:20
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Hypertriglycer...	OMIM:615238
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Seizure, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycem...	OMIM:201450
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria	OMIM:245900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ...	ORPHA:79240
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k...	ORPHA:85445
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Postaxial pol...	OMIM:615996
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ...	ORPHA:370
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia...	ORPHA:411593
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Cystinuria	Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis	ORPHA:214
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Infantile Liver Failure Syndrome 2	Seizure, Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Acute hepatic fai...	OMIM:616483
Apolipoprotein C-Ii Deficiency	Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest...	OMIM:207750
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Clinodactyly, Maturity-onset diabetes of the young, Hypercholesterolemia, Short foot,...	ORPHA:254531
Hypomagnesemia 3, Renal	Hyperuricemia, Hypocitraturia, Hypercitraturia, Hypermagnesiuria, Recurrent urinary tract infecti...	OMIM:248250
Citrullinemia Type Ii	Hypercholesterolemia, Hepatic fibrosis, Seizure, Hepatocellular carcinoma, Elevated hepatic trans...	ORPHA:247585
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Pyridoxine-Dependent Epilepsy	Seizure, Focal-onset seizure, Status epilepticus, Early onset absence seizures, Hypoglycemia, Ato...	ORPHA:3006
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr...	ORPHA:228305
Seckel Syndrome 10	Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur...	OMIM:617253
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ...	ORPHA:264580
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Seizure, Myoclonus	OMIM:610090
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Febrile seizure (within the age range of 3 months to 6 years), Elevated urinary 3-hydroxybutyric ...	ORPHA:42
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor...	OMIM:278000
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Hyperinsulinemia, Generalized aminoaciduria, Hypoglycemia	OMIM:606528
Tyrosinemia, Type I	Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c...	OMIM:276700
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Hyperbiliru...	OMIM:620010
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De...	ORPHA:79159
Lesch-Nyhan Syndrome	Hyperuricemia, Seizure, Short stature, Hip dislocation, Podagra, Nephrocalcinosis, Nephrolithiasi...	OMIM:300322
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea...	ORPHA:79084
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Seizure, Short stature, Neonatal hypoglycemia, Hypoglycemia, Postnatal growth retardation	ORPHA:231140
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Hyperlipidemia	OMIM:617885
Endocardial Fibroelastosis	Hypoglycemia, Hypoplasia of penis, Seizure	ORPHA:2022
Nephronophthisis 2	Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ...	OMIM:602088
Gaisböck Syndrome	Hyperuricemia, Hypernatriuria, Increased circulating renin level, Gout, Diabetes mellitus, Cholec...	ORPHA:90041
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc...	OMIM:614227
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Seizure, Increased circulating...	ORPHA:79644
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Seizure, Hypoglycemia, Hyperammonemia, Cardiomegaly, Ascites, Intrauterine growt...	OMIM:614702
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria...	ORPHA:228308
Hypouricemia, Renal, 1	Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R...	OMIM:220150
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Short stature, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia	ORPHA:329249
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas...	OMIM:615980
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple...	OMIM:300635
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Patent ductus arteriosus, Nephrotic syndrome, Enlarged kidney, Flared ilia...	OMIM:617303
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Acute kidney injury, Arthritis, Gout, Ren...	ORPHA:411543
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic...	OMIM:615381
Carnitine Deficiency, Systemic Primary	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im...	OMIM:212140
3-Methylglutaconic Aciduria Type 4	Decreased liver function, 3-Methylglutaconic aciduria, Seizure, Hypoglycemia	ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615395
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ...	OMIM:301045
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating ala...	OMIM:256810
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly...	OMIM:618838
Galloway-Mowat Syndrome 7	Renal tubular atrophy, Hypercholesterolemia, IgA deposition in the glomerulus, Hallux valgus, Sho...	OMIM:618348
Pyridoxal Phosphate-Responsive Seizures	Seizure, Abnormal circulating threonine concentration, Abnormal circulating arginine concentratio...	ORPHA:79096
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,...	ORPHA:79303
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki...	ORPHA:730
Congenital Generalized Lipodystrophy	Hyperinsulinemia, Cirrhosis, Increased C-peptide level, Insulin resistance, Hepatic steatosis, Di...	ORPHA:528
Nephrotic Syndrome, Type 11	Renal tubular atrophy, Hypercholesterolemia, IgA deposition in the glomerulus, Nephrotic syndrome...	OMIM:616730
Paternal Uniparental Disomy Of Chromosome 1	Seizure, Short stature, Enlarged kidney, Myoclonus, Membranoproliferative glomerulonephritis, Inc...	ORPHA:251004
Acth Deficiency, Isolated	Seizure, Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia	OMIM:201400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport...	OMIM:263200
Rajab Interstitial Lung Disease With Brain Calcifications 2	Short stature, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Arachnodacty...	OMIM:619013
Congenital Disorder Of Glycosylation, Type Iik	Hemolytic-uremic syndrome, Elevated circulating alanine aminotransferase concentration, Seizure, ...	OMIM:614727
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Elevated circulating creatine kinase concentration, Hepatic steatosis, Insuli...	ORPHA:435660
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote...	OMIM:144250
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Seizure, Hypercholesterolemia	ORPHA:94124
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Seizure, Erlenmeyer flask deformity of the femur...	OMIM:610539
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Riboflavin Deficiency	Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration	OMIM:615026
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hypercholesterolemia, Delayed cranial suture closure, Hyperinsulinemia, Coxa valga, Acroosteolysi...	OMIM:248370
Dysbetalipoproteinemia	Renal steatosis, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increased LDL choleste...	ORPHA:412
Rotor Syndrome	Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Jaundice, Hyperbilir...	ORPHA:3111
Juvenile Paget Disease	Hyperuricemia, Short stature	ORPHA:2801
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen...	ORPHA:209919
Mody	Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E...	ORPHA:552
Hereditary Xanthinuria	Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,...	ORPHA:3467
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hepatomegaly, Hypertrigly...	ORPHA:435651
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hypoketotic hypoglycemia, Hyperinsulinemia, Seizure, Hyperinsulinemic hypoglycemia, Reactive hypo...	ORPHA:276608
Hyperinsulinism Due To Hnf4A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Seizure, Glycosuria, Elevated hepatic transaminase, N...	ORPHA:263455
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Seizure, Elevated hepatic transaminase, Hepatosplenomegaly, He...	ORPHA:541423
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ...	OMIM:615415
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin...	OMIM:617950
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Insulin resistance, Enlarged polycystic ovaries, Insulin-resistant diabetes mell...	ORPHA:90301
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Wide anterior fontanel	OMIM:618272
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia, Hematuria, Hyperlipidemia, Joint hemorrhage	ORPHA:35909
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Seizure, Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Type I dia...	ORPHA:199299
Carnitine-Acylcarnitine Translocase Deficiency	Seizure, Elevated hepatic transaminase, Dicarboxylic aciduria, Neonatal hypoglycemia, Elevated ci...	OMIM:212138
Acute Adrenal Insufficiency	Hyperuricemia, Seizure, Decreased circulating cortisol level, Hyperkalemia, Renal salt wasting, I...	ORPHA:95409
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype...	ORPHA:94088
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice...	OMIM:617049
Cog4-Cdg	Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Hypercholesterolemia,...	ORPHA:263501
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg...	OMIM:208540
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ...	OMIM:600995
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang...	ORPHA:69663
Dicarboxylic Aminoaciduria	Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Seizure, Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Hypoglycemia, Elevated ur...	OMIM:210200
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomeg...	ORPHA:2348
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Hyperammonemia, Pancreatitis	OMIM:620137
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg...	OMIM:214900
Wilson Disease	Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul...	OMIM:277900
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Mandibuloacral Dysplasia	Delayed cranial suture closure, Hyperinsulinemia, Increased circulating free fatty acid level, Ac...	ORPHA:2457
Temple Syndrome	Hypertriglyceridemia, Small hand, Short stature, Clinodactyly, Maturity-onset diabetes of the you...	OMIM:616222
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia, Postnatal growth retardation	OMIM:616111
Patent Ductus Venosus	Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function	OMIM:601466
Mehmo Syndrome	Seizure, Birth length less than 3rd percentile, Delayed puberty, Hypoglycemia, Micropenis	OMIM:300148
Blue Diaper Syndrome	Hyperphosphatemia, Elevated hepatic transaminase, Blue urine, Recurrent hypoglycemia, Hypercalcem...	ORPHA:94086
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Cirrhosis, Abnormal circulating lipid concentration, Insulin resistance, Hepati...	ORPHA:79086
Hemochromatosis Type 4	Cirrhosis, Joint dislocation, Hepatic steatosis, Increased circulating ferritin concentration, Jo...	ORPHA:139491
Meckel Syndrome, Type 8	Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Infantile Liver Failure Syndrome 3	Abnormality of the epiphysis of the femoral head, Short stature, Jaundice, Elevated hepatic trans...	OMIM:618641
Peroxisome Biogenesis Disorder 6A (Zellweger)	Seizure, Epiphyseal stippling, Renal cyst, Hepatomegaly, Decreased liver function	OMIM:614870
Lcat Deficiency	Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi...	ORPHA:650
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Nephroblastoma, Hepatic failure, Hyperbilirubinemia, Hepatocellular carcinoma, Abnormal renal phy...	ORPHA:158057
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hyperuricemia, Short stature, Short humerus, Hydroxyprolinuria, Lateral femora...	OMIM:239000
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Seizure, Diffuse hepatic steatosis, Elevated hepatic tra...	OMIM:264470
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Short stature, Diabetic ketoacidosis, Long penis, Hypoglycemia, Postprandial hy...	OMIM:262190
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
H Syndrome	Hallux valgus, Short stature, Abnormality of the kidney, Enlarged kidney, Camptodactyly, Hepatosp...	ORPHA:168569
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Decreased liver function, Renal dysplasia, Seizure, Myoclonus, Renal cyst...	OMIM:614922
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co...	ORPHA:53693
Diaphanospondylodysostosis	Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Narrow pelvis bone, Nephrogen...	OMIM:608022
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia, Tubulointerstitial nephritis, Hepatic failure, Elevated circulating acy...	ORPHA:157
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph...	OMIM:619355
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Short stature, Renal dysplasia, Short long bone, Enlarged kidney, Polycyst...	OMIM:613091
9Q31.1Q31.3 Microdeletion Syndrome	Tapered finger, Small hand, Short stature, Type II diabetes mellitus, Renovascular hypertension, ...	ORPHA:401923
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi...	OMIM:238600
Tangier Disease	Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci...	OMIM:205400
Abdominal Obesity-Metabolic Syndrome 3	Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl...	OMIM:615812
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Seizure, Decreased circulating cortisol level, Hyperkalemia, Renal salt wasting, Hypoglycemia, Hy...	OMIM:614736
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch...	ORPHA:209902
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized-onset seizure, Increased urinary taurine, Hypertaurinemia, Generalized myoclonic seiz...	OMIM:615501
Hypoadrenocorticism, Familial	Hypoglycemia, Hyperkalemia, Seizure, Hyponatremia	OMIM:240200
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Hepatocellular Carcinoma	Abnormality of the liver, Liver abscess, Type II diabetes mellitus, Hepatic necrosis, Jaundice, E...	ORPHA:88673
Carnitine-Acylcarnitine Translocase Deficiency	Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Seiz...	ORPHA:159
Maple Syrup Urine Disease	Seizure, Hypoglycemia, Increased level of hippuric acid in urine, Elevated plasma branched chain ...	OMIM:248600
Leprechaunism	Hyperinsulinemia, Hyperaldosteronism, Enlarged kidney, Hypokalemia, Insulin resistance, Increased...	ORPHA:508
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Seizure, Jaundice, Increased...	OMIM:267700
Hypouricemia, Renal, 2	Nephrolithiasis, Hypouricemia	OMIM:612076
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Broad long bone diaphyses, Rhizomelia, Short stature, Stage 5 chronic kidney disease, Short iliac...	OMIM:614376
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small hand, Short stature, Clinodactyly, Maturity-onset diabetes of the young, Hypercholesterolem...	ORPHA:96184
Cog7-Cdg	Seizure, Abnormal finger morphology, Abnormality of the kidney, Jaundice, Elevated hepatic transa...	ORPHA:79333
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con...	OMIM:618620
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Hyperalaninemia, Seizure, Hyperprolinemia	OMIM:615918
Propionic Acidemia	Hyperglycinemia, Seizure, Short stature, Hypoglycemia, Increased level of hippuric acid in urine,...	OMIM:606054
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia, Elevated hepatic transaminase, Intrauterine growth retardation, Hepatomegaly	OMIM:618958
2-Methylbutyryl-Coa Dehydrogenase Deficiency	2-ethylhydracylic aciduria, Hypoglycemia, Seizure	OMIM:610006
Congenital Isolated Acth Deficiency	Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemi...	ORPHA:199296
Hsd10 Mitochondrial Disease	Hypoglycemia, Elevated circulating tiglylglycine concentration, Seizure	OMIM:300438
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	3-Methylglutaconic aciduria, Hypoglycemia, Hyperammonemia, Seizure	OMIM:614739
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat...	OMIM:615558
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Hepatic fibrosis, Hepatic failure, Short stature, Short long bone, Impaired glucose ...	OMIM:615630
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly	ORPHA:2398
Leigh Syndrome	Hepatocellular necrosis, Seizure	OMIM:256000
Protoporphyria, Erythropoietic, 1	Hepatic failure, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Bilateral Striopallidodentate Calcinosis	Seizure, Abnormality of the liver, Intrauterine growth retardation, Hepatomegaly	ORPHA:1980
Carcinoid Syndrome	Hepatic necrosis, Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration	ORPHA:100093
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hypertaurinemia, El...	OMIM:245400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis...	OMIM:251000
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem...	OMIM:615947
Isolated Polycystic Liver Disease	Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Multiple renal ...	ORPHA:2924
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G...	ORPHA:3337
Juvenile Nephropathic Cystinosis	Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ...	ORPHA:411634
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Short stature, Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly	ORPHA:417
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Coxa valga, Flared iliac wing, Camptodactyly, Hip dislocation, Hepatomegaly, Spl...	OMIM:252500
Addison Disease	Hyperuricemia, Seizure, Decreased circulating cortisol level, Hyperkalemia, Type I diabetes melli...	ORPHA:85138
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Short stature, Hepatitis, Elevated h...	OMIM:614921
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Infantile Liver Failure Syndrome 1	Seizure, Elevated hepatic transaminase, Hepatic steatosis, Long toe, Hepatomegaly, Acute hepatic ...	OMIM:615438
Timothy Syndrome	Cardiomegaly, Hypoglycemia, Hypocalcemia, Seizure	OMIM:601005
Smith-Magenis Syndrome	Hypertriglyceridemia, Seizure, Short stature, Brachydactyly, Hypercholesterolemia, Abnormality of...	OMIM:182290
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Seizure, Cystinuria, Neonatal hypoglycemia, Hypocalcemia, Nephrolithiasis, ...	OMIM:606407
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Seizure, Hypoglycemia, Hepatomegaly, Cholestatic liver disease	ORPHA:5
Focal Segmental Glomerulosclerosis 1	Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ...	OMIM:603278
Mitochondrial Complex I Deficiency, Nuclear Type 33	Seizure, Status epilepticus, Hypoglycemia, Hyperammonemia, Hypospadias, Intrauterine growth retar...	OMIM:618253
Peroxisome Biogenesis Disorder 8A (Zellweger)	Seizure, Jaundice, Epiphyseal stippling, Elevated circulating aspartate aminotransferase concentr...	OMIM:614876
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Hyperalaninemia, Status epilepticus, Neonatal hypoglycemia, Increased serum pyruvate, Hyperprolin...	OMIM:619046
Cockayne Syndrome	Urinary incontinence, Hyperuricemia, Seizure, Nephrotic syndrome, Neurogenic bladder, Elevated he...	ORPHA:191
3-Methylglutaconic Aciduria, Type V	Elevated circulating alanine aminotransferase concentration, 3-Methylglutaconic aciduria, Microve...	OMIM:610198
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Seizure, Recurrent hypoglycemia	OMIM:618158
D-Glyceric Aciduria	Aminoaciduria, Seizure, Myoclonus, Focal clonic seizure, Status epilepticus, Hypoglycemia, Bilate...	OMIM:220120
Galactosemia Iii	Aminoaciduria, Hypergalactosemia, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly	OMIM:230350
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Chylomicron Retention Disease	Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Growth delay...	ORPHA:71
Dpm1-Cdg	Knee flexion contracture, Hepatic fibrosis, Generalized tonic seizure, Seizure, Long hallux, Gene...	ORPHA:79322
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Intrauterine growth retardation	ORPHA:231147
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycem...	OMIM:615453
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cirrhosis, Microvesicular hepatic steatosis, Generalized-onset seizure, Polysplenia, Macronodular...	OMIM:619418
Malonyl-Coa Decarboxylase Deficiency	Seizure, Short stature, Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria	OMIM:248360
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Porphyrinuria, Periportal fibrosis, Decreased circu...	ORPHA:101330
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa...	OMIM:200995
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Generalized tonic seizure, Seizure, Ketonuria, ...	ORPHA:480864
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Uric acid nephrolithiasis, Hyperuricemia, Short stature, Gout, Hypospadias, Renal i...	OMIM:300661
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Seizure, Myoclonus, Elevated hepatic transaminase, Neonatal hypoglyc...	ORPHA:445038
Familial Hemophagocytic Lymphohistiocytosis	Seizure, Jaundice, Elevated hepatic transaminase, Abnormal renal physiology, Increased circulatin...	ORPHA:540
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti...	ORPHA:731
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Seizure, Short stature, Hip dislocation, Steatorrhea, Hepatic steatosis, Diabet...	OMIM:616263
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancr...	OMIM:151660
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri...	OMIM:615751
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Insulin resistance, Severe postnatal growth retardation, Hypoglycemia, Neonatal hy...	ORPHA:73272
Macrophage Activation Syndrome	Elevated circulating alanine aminotransferase concentration, Juvenile rheumatoid arthritis, Hepat...	ORPHA:158061
Fanconi-Bickel Syndrome	Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Renal tu...	OMIM:227810
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera...	OMIM:614582
Adrenomyodystrophy	Seizure, Short stature, Hepatic steatosis, Megacystis, Abnormality of the urinary system	ORPHA:977
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Epiphyseal stippling, Seizure, Hepatomegaly	OMIM:614859
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Ddost-Cdg	Nephrotic range proteinuria, Seizure, Short stature, Elevated hepatic transaminase, Hepatic steat...	ORPHA:300536
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
19P13.12 Microdeletion Syndrome	Finger syndactyly, Seizure, Clinodactyly of the 5th finger, Hepatic steatosis, Hypospadias, Toe c...	ORPHA:254346
Lysinuric Protein Intolerance	Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephrit...	ORPHA:470
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Seizure, Recurrent urinary tract infections, Stage 5 chronic kidney disease, As...	OMIM:619487
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Jaundice, 4-hyd...	OMIM:617156
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Renal ...	ORPHA:890
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria, Hypouricemia	OMIM:242050
Primary Lipodystrophy	Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Hyperl...	ORPHA:90970
Smith-Magenis Syndrome	Hypercholesterolemia, Seizure, Short stature, Renal hypoplasia/aplasia, Toe syndactyly, Hand poly...	ORPHA:819
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Seizure, Myoclonus	OMIM:618241
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr...	OMIM:613070
Mandibuloacral Dysplasia Progeroid Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Genu valgum, Hyp...	OMIM:619127
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperleucinemia, Seizure, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic ac...	OMIM:210210
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly...	OMIM:618835
Maternal Uniparental Disomy Of Chromosome 1	Delayed closure of the anterior fontanelle, Seizure, Short stature, Epiphyseal stippling, Type I ...	ORPHA:251009
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly...	OMIM:618839
Pituitary Hormone Deficiency, Combined, 6	Seizure, Short stature, Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Kaposiform Lymphangiomatosis	Pancreatic cysts, Abnormality of the ischium, Enlarged kidney, Abnormal spleen morphology, Hepato...	ORPHA:464329
Neuroleptic Malignant Syndrome	Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Eleva...	ORPHA:94093
Acute Liver Failure	Seizure, Acute kidney injury, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Elevated hepat...	ORPHA:90062
Alg9-Cdg	Delayed cranial suture closure, Hypoplasia of the bladder, Hepatic cysts, Wide anterior fontanel,...	ORPHA:79328
Familial Chylomicronemia Syndrome	Recurrent pancreatitis, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Acute...	ORPHA:444490
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Pan...	OMIM:618805
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Decreased plasma carni...	ORPHA:99901
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Seizure, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, ...	OMIM:603553
Molybdenum Cofactor Deficiency, Complementation Group A	Increased urinary taurine, Seizure, Myoclonic spasms, Increased urinary thiosulfate, Absent urina...	OMIM:252150
Glutaric Acidemia I	Seizure, Ketonuria, Hypoglycemia, Elevated circulating glutaric acid concentration, Glutaric acid...	OMIM:231670
Primary Pigmented Nodular Adrenocortical Disease	Increased circulating cortisol level, Type II diabetes mellitus, Elevated hepatic transaminase, H...	ORPHA:189439
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia...	OMIM:130650
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Seizure, Hepatomegaly, Increased urinary glycerol	OMIM:229700
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Short long bone, Enlarged kidney, Splenic cyst, Unilateral renal agenes...	OMIM:618188
Retinitis Pigmentosa 59	Seizure, Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Renal insu...	OMIM:613861
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal long bone morphology, Urinary bladder sphincter dysfunction, Short stature, Elevated cir...	ORPHA:52430
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Enlarged kidney, Hand polydactyly, Proximal placement of thumb, Absent radius, ...	OMIM:314390
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Growth delay, Hepatomegaly, Splenomegaly	ORPHA:79238
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Aminoaciduria, Renal tubular acidosis, Glycosuria, Hip dysplasia, Jaundice, Elevated hepatic tran...	OMIM:613404
Lymphoid Interstitial Pneumonia	Enlarged kidney, Rheumatoid arthritis, Hepatomegaly, Clubbing	ORPHA:79128
Solitary Fibrous Tumor/Hemangiopericytoma	Pelvic mass, Urinary retention, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemi...	ORPHA:2126
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hip subluxation, Reduced pancreatic beta cells, Coxa valga, Irregular carpal bones, Hip dislocati...	OMIM:226980
Molybdenum Cofactor Deficiency, Complementation Group B	Increased urinary taurine, Seizure, Myoclonic spasms, Increased urinary hypoxanthine, Xanthine ne...	OMIM:252160
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia, Short stature, Postnatal growth retardation	ORPHA:231137
Classic Galactosemia	Hepatic failure, Seizure, Jaundice, Elevated hepatic transaminase, Hypoglycemia, Delayed puberty,...	ORPHA:79239
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Insulin resistance, Elevated hepatic transaminase, Elevated circulating creatin...	OMIM:613327
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Intrauterine growth retardation, Short stature	ORPHA:48431
Dilated Cardiomyopathy With Ataxia	3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Seizure, Elevated hepatic transami...	ORPHA:66634
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:607398
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Short stature, Elevated hepatic transaminase,...	ORPHA:98907
Ogden Syndrome	Metatarsus valgus, Delayed cranial suture closure, Broad hallux, Global glomerulosclerosis, Promi...	OMIM:300855
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Hyperaldosteronism, Increased circulating cortisol level, Renal cell carcinoma, Hepatic steatosis...	ORPHA:189427
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra...	ORPHA:567983
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Elevated hepatic tra...	OMIM:608594
Immunodeficiency 47	Hypercholesterolemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentrati...	OMIM:300972
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Abnormality of the liver, Seizure, Short stature, A...	ORPHA:1667
Orthostatic Hypotension 2	Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Infantile Sialic Acid Storage Disease	Metaphyseal irregularity, Seizure, Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Splen...	OMIM:269920
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Left ventricular hypertrophy, Seizure, Hypercholesterolemia	ORPHA:90065
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Sei...	ORPHA:391428
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Seizure, Recurrent hypoglycemia	OMIM:202200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Pancr...	ORPHA:280365
Congenital Disorder Of Glycosylation, Type Iie	Elevated circulating alanine aminotransferase concentration, Seizure, Short stature, Neurogenic b...	OMIM:608779
Nephronophthisis 19	Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th...	OMIM:616217
Familial Osteodysplasia, Anderson Type	Hyperuricemia, Aplastic clavicle, Seizure, Aplasia/hypoplasia of the femur, Clinodactyly of the 5...	ORPHA:2769
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hepatoblastoma, Elevated circulating alpha-fetoprotein concentration, Hypo...	ORPHA:116
Werner Syndrome	Elevated circulating alanine aminotransferase concentration, Short stature, Elevated circulating ...	OMIM:277700
Autoimmune Hepatitis	Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Dif...	ORPHA:2137
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Very long chain fatty a...	ORPHA:98908
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Generalized clonic seizure, Hyperalaninemia, Seizure, Hypoglutaminemia, Hypertaur...	ORPHA:3008
D-Bifunctional Protein Deficiency	Delayed cranial suture closure, Very long chain fatty acid accumulation, Seizure, Increased circu...	OMIM:261515
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Seizure, Myoclonus, Status epilepticus, Neonatal hypoglycemia, Elevated circulatin...	OMIM:619055
Monosomy 13Q34	Insulin resistance, Postaxial foot polydactyly, Hepatic steatosis, Hypercalcemia, Growth delay, P...	ORPHA:96168
Familial Renal Glucosuria	Recurrent urinary tract infections, Glycosuria, Insulin resistance, Moderate postnatal growth ret...	ORPHA:69076
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy...	OMIM:606176
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Alagille Syndrome 1	Renal dysplasia, Hepatocellular carcinoma, Elevated hepatic transaminase, Hypercholesterolemia, V...	OMIM:118450
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Seizure, Hyponatremia	OMIM:608688
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel...	OMIM:269700
Peroxisome Biogenesis Disorder 4A (Zellweger)	Seizure, Increased circulating very long-chain fatty acid concentration, Epiphyseal stippling, Re...	OMIM:614862
Wilson Disease	Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Join...	ORPHA:905
Aromatase Deficiency	Genu valgum, Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Hepatic ...	ORPHA:91
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Seizure, Hyperbi...	OMIM:614300
Peroxisome Biogenesis Disorder 7A (Zellweger)	Wide anterior fontanel, Seizure, Elevated circulating tetracosanoic acid concentration, Jaundice,...	OMIM:614872
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Seizure, Short stature, Delayed puberty, Recurrent hypoglycemia, Growth delay, Renal hypoplasia, ...	OMIM:616817
Donohue Syndrome	Hyperinsulinemia, Hepatic fibrosis, Long penis, Postprandial hyperglycemia, Cholestasis, Pancreat...	OMIM:246200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Seizure, Hepatocellular necrosis, Unconjugated hyperbilirubinem...	OMIM:618278
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypoglycemia...	OMIM:602579
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato...	ORPHA:369840
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, 3-Methylglutaconic aciduria, Seizure, Abnormality of the kidney, Hypospa...	ORPHA:1194
Hemochromatosis, Type 1	Cirrhosis, Increased serum iron, Arthropathy, Glucose intolerance, Hepatocellular carcinoma, Elev...	OMIM:235200
Visceral Steatosis, Congenital	Renal steatosis, Seizure, Jaundice, Hepatic steatosis, Hypoglycemia, Hypocalcemia	OMIM:228100
Orthostatic Hypotension 1	Seizure, Nocturia, Neonatal hypoglycemia, Increased blood urea nitrogen, Hypomagnesemia	OMIM:223360
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Elevated hepa...	OMIM:613313
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Hypoglycemia, Impaired histidine renal tubular absorption	ORPHA:2158
Tyrosinemia Type 1	Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom...	ORPHA:882
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly...	OMIM:616860
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly	OMIM:618398
Temple Syndrome	Type II diabetes mellitus, Short stature, Recurrent hypoglycemia, Postnatal growth retardation	ORPHA:254516
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Hepatic fibrosis, Generalized-onset seizure, Seizure, Nephrotic syndrome, E...	OMIM:212065
Combined Oxidative Phosphorylation Deficiency 37	Myoclonic seizure, 3-Methylglutaconic aciduria, Hyperalaninemia, Elevated hepatic transaminase, H...	OMIM:618329
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Methioninuria, Seizure, Hyperhomocystinemia, Hepatic steatosis, Arachnodactyl...	OMIM:236200
Lysosomal Acid Lipase Deficiency	Abnormal urine potassium concentration, Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, ...	ORPHA:275761
Insulinoma	Hyperinsulinemia, Seizure, Nonketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Reactive hypog...	ORPHA:97279
Silver-Russell Syndrome 2	Short stature, Intrauterine growth retardation, Neonatal hypoglycemia	OMIM:618905
Progressive Familial Intrahepatic Cholestasis	Short stature, Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly	ORPHA:172
Endocrine-Cerebroosteodysplasia	Microphallus, Enlarged kidney, Brachydactyly, Syndactyly, Hypospadias, Preaxial polydactyly, Sand...	OMIM:612651
Pituitary Stalk Interruption Syndrome	Seizure, Short stature, Hypoplasia of penis, Delayed puberty, Hypoglycemia	ORPHA:95496
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting, Hypoglycemia	OMIM:201910
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus	ORPHA:66628
Mitochondrial Complex I Deficiency, Nuclear Type 11	Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia, Hepatomegaly	ORPHA:28
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff...	OMIM:256300
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Seizure, Joint contracture of the hand, Polycystic kidney dysplasia, Jaundice, Cam...	OMIM:214110
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Elevated hepatic tran...	OMIM:609015
Intellectual Developmental Disorder, Autosomal Dominant 35	Hypoglycemia, Intrauterine growth retardation, Seizure, Multifocal seizures	OMIM:616355
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Upper limb undergrowth, Congenital megaureter, Generalized non-motor (a...	ORPHA:369837
Argininemia	Seizure, Portal fibrosis, Oroticaciduria, Diaminoaciduria, Micronodular cirrhosis, Cholestasis, H...	OMIM:207800
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Seizure, Glycosuria, Hyperphosphaturia, Diffuse hepatic steatosis, Hepatomegaly, D...	ORPHA:436271
Biliary Atresia, Extrahepatic	Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc...	OMIM:210500
Galactosemia I	Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased ...	OMIM:230400
Pearson Syndrome	Elevated hepatic transaminase, Lacticaciduria, Hepatic steatosis, Hepatomegaly, Splenomegaly, Pos...	ORPHA:699
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Sclerosing cholangitis, Renal interstitial immunoglobulin deposits, ...	ORPHA:449395
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Seizure, Decreased liver function	ORPHA:70472
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemic hypoglycemia, Abnor...	ORPHA:2298
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Polydactyly, 3-Methylglutaconic aciduria, Seizure, Methylmalonic acidem...	ORPHA:17
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus	ORPHA:179494
Silver-Russell Syndrome 1	Nephroblastoma, Congenital posterior urethral valve, Hepatocellular carcinoma, Abnormality of the...	OMIM:180860
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Seizure, Diabetes mellitus, Delayed puberty, Hypoglycemia, Severe postnatal growth retardation, P...	ORPHA:391408
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Aredyld Syndrome	Short stature, Type II diabetes mellitus, Intrauterine growth retardation, Type I diabetes mellit...	ORPHA:1133
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cir...	OMIM:615486
Leber Congenital Amaurosis 1	Hyperthreoninemia, Hyperthreoninuria, Growth delay, Hepatomegaly	OMIM:204000
Congenital Rubella Syndrome	Patent ductus arteriosus, Seizure, Short stature, Jaundice, Type I diabetes mellitus, Hepatomegal...	ORPHA:290
Monocarboxylate Transporter 1 Deficiency

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