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 (865 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		Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca...	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	Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole...	OMIM:232700
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated he...	OMIM:306000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Short stature, Hyperlipidemia, Hyperuricemia, Seizure	ORPHA:364
Acid-Labile Subunit Deficiency	Insulin insensitivity, Mild postnatal growth retardation, Reduced insulin like growth factor bind...	OMIM:615961
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia, Short stature	ORPHA:366
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride...	OMIM:614480
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Coronary Artery Disease, Autosomal Dominant 2	Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m...	OMIM:610947
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir...	ORPHA:293964
Glycogen Storage Disease Ixc	Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten...	OMIM:613027
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f...	OMIM:613092
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Short stature, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic stea...	OMIM:612526
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:619175
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Myoclonus, Hyperammonemia, Increased level of hipp...	OMIM:246450
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia	OMIM:609886
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch...	ORPHA:79506
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Seizure, Hypoglycemia	ORPHA:35701
Glycogen Storage Disease Ia	Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca...	OMIM:232200
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, ...	OMIM:604367
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hepatic steatosi...	OMIM:610717
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased...	OMIM:615703
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Glycogen Storage Disease Ib	Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca...	OMIM:232220
Hemochromatosis, Neonatal	Increased serum iron, Abnormality of iron homeostasis, Hypoglycemia, Hepatocellular necrosis, Hep...	OMIM:231100
Neonatal Hemochromatosis	Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Abnormal localization of kidney,...	ORPHA:446
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Growth delay, Short stature, Delayed puberty	ORPHA:314802
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Nephritis, Hyperuricemia, Nephropathy, Renal insufficiency	OMIM:162000
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c...	OMIM:607616
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Hypoglycemia, Severe postnatal growth retardation, Short stature	OMIM:262700
Riboflavin Deficiency	Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration	OMIM:615026
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content...	ORPHA:369
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Severe short-limb d...	ORPHA:436182
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Ascites, Growth d...	OMIM:251880
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c...	ORPHA:35878
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci...	OMIM:616828
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Hypoglycemia, Severe short stature	OMIM:223500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Renal cyst, H...	OMIM:617056
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Hepatomegaly, Hypouricemia, Hypoglycemia, Short stature, Nephrocalcinosis, Gly...	OMIM:616026
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Hypoketotic hypoglycemia, Intrauterine growth retardation, Hyperinsulinemic hypogl...	ORPHA:71212
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia	OMIM:615158
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Sei...	ORPHA:79233
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz...	OMIM:610021
Encephalopathy, Progressive, With Or Without Lipodystrophy	Seizure, Hepatomegaly, Myoclonus, Hypertriglyceridemia	OMIM:615924
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Renal steatosis, Hepatic failure	OMIM:261650
Isolated Growth Hormone Deficiency, Type Ia	Pituitary dwarfism, Hypoglycemia, Severe short stature	OMIM:262400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hypoglycemia, Intrauterine growth retardation, Ascites, Cirrhos...	OMIM:617156
Fructose And Galactose Intolerance	Seizure, Hypoglycemia	OMIM:229500
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Growth delay, Short stature, Delayed puberty	ORPHA:314811
Lipodystrophy, Familial Partial, Type 5	Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	OMIM:615238
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Intrauterine growth retardation, Duplicated collecting system, Seizure, Hepatic s...	OMIM:617093
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Seizure, Neonatal hypoglycemia	OMIM:240900
Growth Hormone Insensitivity Syndrome	Type II diabetes mellitus, Hypoglycemia, Short stature, Insulin resistance, Hypercholesterolemia,...	ORPHA:181393
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
3-Methylglutaconic Aciduria Type 1	Seizure, 3-Methylglutaconic aciduria, Hypoglycemia, Hepatomegaly	ORPHA:67046
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Growth delay, Hyperbilirubinemia, Cirrhosis, Hypercholes...	OMIM:605814
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hepatocellular necrosis, Bilateral tonic-clonic seizure, Elevated circulating creat...	OMIM:201475
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Decreased plasma free carnitine, Hyperammonemia, Seizure, Decreased plasma total carnitine, Long-...	OMIM:608836
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Glycogen Storage Disease 0, Liver	Seizure, Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:616829
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Growth delay, Short stature, Abnormal circulating selenium concentration, A...	ORPHA:171706
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Myoglobinuria, Hypoketotic hypoglycemia, Growth delay, Hepatic necrosi...	OMIM:231530
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Pancrea...	ORPHA:79083
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Intrauterine growth retardation, Ketotic hypoglycemia, Elevated circulatin...	ORPHA:26792
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Neonatal hypoglyce...	ORPHA:348
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset d...	ORPHA:324575
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Increased hepatic glycogen content, Abnormal hepatic glycogen storage, Hypo...	ORPHA:2088
Hypertriglyceridemia 1	Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia	OMIM:145750
Hyperlipoproteinemia, Type Iv	Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia	OMIM:144600
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Organic aciduria, Hyperammonemia	ORPHA:35
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur...	ORPHA:75234
Glycogen Storage Disease Iii	Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating...	OMIM:232400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia, Short stature, Ketotic hypoglycemia, Glycosuria, Seizure, Elevated hepatic transa...	ORPHA:2089
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Hypoglycemia, Short stature	OMIM:616113
Multiple Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Hypoglycemi...	OMIM:231680
Lipase Deficiency, Combined	Type II diabetes mellitus, Pancreatitis, Hypertriglyceridemia	OMIM:246650
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Hypertriglyceridemia, Growth delay	OMIM:618010
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5...	OMIM:613496
African Iron Overload	Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe...	ORPHA:139507
Renal Cysts And Diabetes Syndrome	Hypospadias, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Diabetes mellitus, Unilat...	OMIM:137920
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal...	OMIM:255120
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalaninemia, Seizure, Increased ...	OMIM:266150
Hereditary Fructose Intolerance	Hepatomegaly, Growth delay, Chronic hepatic failure, Hypophosphatemia, Hyperuricemia, Seizure, Re...	ORPHA:469
Glycogen Storage Disease Ic	Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca...	OMIM:232240
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia, Seizure, Increased serum pyruvate, Organic aciduria	OMIM:614741
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Intrauterine growth retardation, Hyp...	OMIM:619048
Morgagni-Stewart-Morel Syndrome	Seizure, Hypercholesterolemia, Diabetes mellitus, Hyperuricemia	ORPHA:77296
Hypoglycemia, Leucine-Induced	Seizure, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Alstrom Syndrome	Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti...	OMIM:203800
Combined Oxidative Phosphorylation Deficiency 52	Hyperamylasemia, Hypoglycemia, Lacticaciduria, Elevated circulating creatine kinase concentration...	OMIM:619386
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Short stature, Tubulointerstiti...	ORPHA:79259
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Hyperuricemia, Seizure, Vesicoureteral reflux, Chronic kidney disease, Proteinuri...	ORPHA:261222
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Seizure, Increased circulating ferritin concentration, Hypertriglycer...	OMIM:603552
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Re...	ORPHA:276556
Galactokinase Deficiency	Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Seizure, H...	ORPHA:79237
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly...	OMIM:608600
Medullary cystic kidney disease 2	Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ...	OMIM:603860
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid nephrolithias...	ORPHA:411536
Glycogen Storage Disease Vii	Increased total bilirubin, Cholelithiasis, Exercise-induced myoglobinuria, Hyperuricemia, Jaundice	OMIM:232800
Hemochromatosis, Type 4	Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C...	OMIM:606069
Fish-Eye Disease	Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,...	ORPHA:276575
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia, ...	OMIM:618120
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Multiple Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Hepatomegaly, Hypoglycemia, Lacticaciduria, Elevated circulating creatine ...	ORPHA:26791
Nephronophthisis 16	Hepatic fibrosis, Nephronophthisis, Patent ductus arteriosus, Polycystic kidney dysplasia, Choles...	OMIM:615382
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia, Splenomegaly, Hepatic failure, Aminoaciduria	ORPHA:664
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Insulin resistance, Myoclonus, Seizure, Cirrhosis, Status epilepticus, Hepatic stea...	ORPHA:363400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Seizure, Hepatic steatosis, Impaired gluconeoge...	OMIM:261680
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Hyperinsulinemic...	ORPHA:276580
Acquired Partial Lipodystrophy	Insulin resistance, Seizure, Hepatic steatosis, Microscopic hematuria, Glomerulopathy, Proteinuria	ORPHA:79087
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ...	OMIM:613845
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Aciduria	OMIM:617950
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ...	OMIM:603471
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Abnormality of endocrine pancreas physiolo...	ORPHA:93111
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Seizure, Hepatic failure, Elevated hepatic tr...	ORPHA:156
Glycerol Kinase Deficiency	Hypoglycemia, Growth delay, Short stature, Seizure, Increased urinary glycerol, Hypertriglyceridemia	OMIM:307030
2P21 Microdeletion Syndrome	Hypoglycemia, Growth delay, Nephrolithiasis, Cystinuria, Seizure, Hypocalcemia	ORPHA:163693
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:600649
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Methylmalonic aciduria, Focal impair...	ORPHA:289504
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De...	OMIM:174000
Burkitt Lymphoma	Abnormality of the liver, Abnormality of the spleen, Hyperuricemia, Abnormality of the pancreas	ORPHA:543
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc...	ORPHA:280356
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Organic aciduria, Hyperammonemia	ORPHA:6
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Increased urine alpha-ketoglutarate concentration...	ORPHA:2394
Laron Syndrome	Hypoglycemia, Hypoplasia of penis, Abnormality of the elbow, Severe short stature, Hypercholester...	ORPHA:633
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,...	ORPHA:567548
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Hammertoe	OMIM:618400
Fructose Intolerance, Hereditary	Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Hyp...	OMIM:229600
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Carnitine Deficiency, Systemic Primary	Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Cardiomegaly, Hyperammonemia, Rec...	OMIM:212140
Retinitis Pigmentosa 59	Hepatomegaly, Intrauterine growth retardation, Seizure, Micropenis, Elevated hepatic transaminase...	OMIM:613861
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricemia, Hyperuricosuria	OMIM:300323
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia	ORPHA:71529
Temple Syndrome	Intrauterine growth retardation, Short stature, Maturity-onset diabetes of the young, Small hand,...	OMIM:616222
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia, Hyperalaninemia, Decreased liver function, Hyperammonemia, Elevated circulating seb...	OMIM:615160
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:603813
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic st...	ORPHA:79085
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hypercholester...	OMIM:606721
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Decreased liver function, Seizure, Elevated hepatic transaminase	OMIM:246900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Sh...	ORPHA:79240
Tyrosinemia, Type I	Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Hypoglycemia, Hepatocellular carc...	OMIM:276700
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Hyperglycemia, Hyperammonemia, Seizure, Hyperuricemia, Ketonuria	ORPHA:134
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Aa Amyloidosis	Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d...	ORPHA:85445
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Nephrotic Syndrome, Type 14	Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stage 5 chronic kidney dise...	OMIM:617575
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Medium chain dicarboxylic aciduria, Hypoglycemia, Seizure, Hepatic steatosis, Hyper...	OMIM:201450
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia	OMIM:245900
Hypomagnesemia 3, Renal	Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo...	OMIM:248250
Pyridoxine-Dependent Epilepsy	Hypoglycemia, Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epile...	ORPHA:3006
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia	ORPHA:214
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Seizure, Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Lipid accumulation in hepatocytes, Myoclonus, Hyperammonemia, Recurrent hypoglycemi...	ORPHA:20
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h...	ORPHA:411593
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellu...	ORPHA:370
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Citrullinemia Type Ii	Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli...	ORPHA:247585
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas...	OMIM:615980
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Renal-Hepatic-Pancreatic Dysplasia 2	Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Femoral bowing, En...	OMIM:615415
Isobutyryl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acy...	ORPHA:79159
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Decreased plasma free carnitine, Myoglobinuria, Hypoketotic hypoglycemia, Elevated ...	ORPHA:228305
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosi...	ORPHA:264580
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia, Seizure, Acute hepatic failure, Elevated hepatic transaminase, Jaun...	OMIM:616483
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Seizure, Hepatomegaly	ORPHA:79281
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Seizure, Myoclonus, Hypoglycemia	OMIM:610090
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Febrile seizure (within the age range of 3 months to 6 years), Hypoglycemia, Bilate...	ORPHA:42
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c...	OMIM:207750
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Intrauterine growth retardation, Maturity-onset diabetes of the young, Small hand, Hypercholester...	ORPHA:254531
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg...	OMIM:263200
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat...	OMIM:619662
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia, Growth delay	OMIM:616111
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Short stature, Neonatal hypoglycemia, Seizure, Postnatal growth retardation	ORPHA:231140
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli...	ORPHA:79084
Endocardial Fibroelastosis	Seizure, Hypoplasia of penis, Hypoglycemia	ORPHA:2022
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Flar...	OMIM:617303
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, ...	ORPHA:411543
Gaisböck Syndrome	Hyperproteinemia, Nephrocalcinosis, Gout, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus,...	ORPHA:90041
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Hyperuricosuria	OMIM:300661
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia, Hepatic failure, Hepatic steatosis	OMIM:617872
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo...	ORPHA:79644
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Decreased plasma free carnitine, Tubulointerstitial nephritis, Hyperlipidemia, Red-brown urine, H...	ORPHA:228308
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati...	OMIM:602088
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Ne...	ORPHA:730
Congenital Disorder Of Glycosylation, Type Iir	Hypospadias, Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic ste...	OMIM:301045
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating threonine concentration, Myoclonus, Abnormal circulating histi...	ORPHA:79096
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc...	OMIM:300635
Galloway-Mowat Syndrome 7	Renal tubular atrophy, Hallux valgus, Focal segmental glomerulosclerosis, Minimal change glomerul...	OMIM:618348
Paternal Uniparental Disomy Of Chromosome 1	Macroscopic hematuria, Hypercalcemia, Short stature, Craniosynostosis, Myoclonus, Seizure, Increa...	ORPHA:251004
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Ele...	OMIM:615381
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria	ORPHA:2158
Congenital Generalized Lipodystrophy	Hepatomegaly, Insulin resistance, Hypercholesterolemia, Cirrhosis, Hepatic steatosis, Diabetes me...	ORPHA:528
3-Methylglutaconic Aciduria Type 4	Decreased liver function, 3-Methylglutaconic aciduria, Seizure, Hypoglycemia	ORPHA:67048
Seckel Syndrome 10	Cone-shaped epiphysis, Insulin resistance, Metaphyseal widening, Glucose intolerance, Impaired gl...	OMIM:617253
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration...	OMIM:618838
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Epiphyseal stippling, Renal cyst, Seizure, Decreased liver function	OMIM:614870
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia, Hypoglycemia, Seizure, Renal salt wasting	OMIM:614736
Combined Oxidative Phosphorylation Deficiency 10	Seizure, Hypoglycemia, Hyperalaninemia	OMIM:614702
Nephrotic Syndrome, Type 11	Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep...	OMIM:616730
Hereditary Xanthinuria	Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa...	ORPHA:3467
Hyperinsulinism Due To Hnf4A Deficiency	Renal Fanconi syndrome, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased h...	ORPHA:263455
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ...	OMIM:220150
Congenital Bile Acid Synthesis Defect Type 2	Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil...	ORPHA:79303
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Myoclonus, Splenomegaly, Seizure, Clonic seizure, Bilateral to...	OMIM:610539
Acth Deficiency, Isolated	Fasting hypoglycemia, Seizure, Jaundice, Cholestasis, Decreased circulating cortisol level	OMIM:201400
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Elevated c...	ORPHA:435660
Rajab Interstitial Lung Disease With Brain Calcifications 2	Short stature, Arachnodactyly, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoa...	OMIM:619013
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Pancreatitis, Hepatic steatosi...	ORPHA:435651
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hydronephrosis, Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Decreased serum ...	ORPHA:541423
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c...	ORPHA:276608
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Joint hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau...	ORPHA:247598
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Bile duct proliferation,...	OMIM:208540
Juvenile Paget Disease	Short stature, Hyperuricemia	ORPHA:2801
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Enlarged kidney, Insulin resist...	ORPHA:90301
Dysbetalipoproteinemia	Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G...	ORPHA:412
Hyperlipidemia, Familial Combined, 3	Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration...	OMIM:144250
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Seizure, Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Acute Adrenal Insufficiency	Hyperkalemia, Hyponatremia, Hypercalcemia, Hypoglycemia, Decreased urinary potassium, Hyperuricem...	ORPHA:95409
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Mody	Pancreatic hypoplasia, Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hype...	ORPHA:552
Combined Oxidative Phosphorylation Deficiency 16	Elevated hepatic transaminase, Microvesicular hepatic steatosis	OMIM:615395
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Hypoglycemia, Hyperammonemia	OMIM:618253
Low Phospholipid-Associated Cholelithiasis	Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli...	ORPHA:69663
Hemochromatosis Type 4	Congenital hepatic fibrosis, Joint dislocation, Cirrhosis, Increased circulating ferritin concent...	ORPHA:139491
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug...	OMIM:214900
Xanthinuria, Type Ii	Hypouricemia, Renal insufficiency, Nephrolithiasis	OMIM:603592
Dicarboxylic Aminoaciduria	Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria	OMIM:222730
Mehmo Syndrome	Hypoglycemia, Birth length less than 3rd percentile, Seizure, Micropenis, Delayed puberty	OMIM:300148
Blue Diaper Syndrome	Hypercalcemia, Nephrocalcinosis, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Elev...	ORPHA:94086
Hereditary Renal Hypouricemia	Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D...	ORPHA:94088
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hypoglycemia, Hepatitis, Hyperuricemia, Seizure, Type I diabetes mel...	ORPHA:199299
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di...	OMIM:600995
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia, Acute hepatic steatosis, Seizure, Acute hyperammonemia, Ketonuria	OMIM:210200
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Dicarboxylic acid...	OMIM:212138
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepati...	OMIM:618641
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitu...	ORPHA:2348
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:613101
Acquired Generalized Lipodystrophy	Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid...	ORPHA:79086
H Syndrome	Hallux valgus, Short stature, Delayed puberty, Micropenis, Hepatosplenomegaly, Diabetes mellitus,...	ORPHA:168569
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia	OMIM:601466
Mandibuloacral Dysplasia	Short clavicles, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Os...	ORPHA:2457
Congenital Megacalycosis	Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol...	ORPHA:93109
Liver Failure, Infantile, Transient	Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato...	OMIM:613070
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Hypoglycemia, Long penis, Short stature, Insulin-resistant diabetes mellitu...	OMIM:262190
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Ascites, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase...	OMIM:617049
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Short stature, Hydroxyprolinuria, Hyperuricemia, Hyperphosphatemia	OMIM:239000
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Hyperbilirubinemia, Seizure, Hepatic steatosis, Decreased liver function, Choles...	OMIM:614300
Diaphanospondylodysostosis	Cystic renal dysplasia, Intrauterine growth retardation, Hammertoe, Narrow pelvis bone, Nephrogen...	OMIM:608022
Lcat Deficiency	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki...	ORPHA:650
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Bilateral tonic-clonic seizure,...	ORPHA:369840
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatocellular carcinoma, Abnormal renal physiology, Hyperbilirubinemia, Splenomegaly, Increased ...	ORPHA:158057
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal spurs, Absent tibia, Cone-shaped epiphysis, Short stature, Postaxial polydactyly, Met...	OMIM:613091
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Myoclonus, Renal cyst, S...	OMIM:614922
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Increased hepatic glycogen content	OMIM:261750
Shashi-Pena Syndrome	Seizure, Hypoglycemia	OMIM:617190
Carnitine Palmitoyltransferase Ii Deficiency	Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne...	ORPHA:157
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Short stature, Elevated hepatic tra...	OMIM:256810
Congenital Disorder Of Glycosylation, Type Im	Seizure, Hypoketotic hypoglycemia	OMIM:610768
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Cog4-Cdg	Growth delay, Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly...	ORPHA:263501
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Ethylmalonic aciduria, Hypoglycemia, Intrauterine growth retardation, Hyperglutaminemia, Elevated...	OMIM:619355
Leprechaunism	Severe intrauterine growth retardation, Hepatomegaly, Fasting hypoglycemia, Long penis, Insulin r...	ORPHA:508
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat...	ORPHA:209902
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Hypoglycemia	OMIM:618958
Cog7-Cdg	Hepatomegaly, Adducted thumb, Elevated circulating creatine kinase concentration, Long fingers, A...	ORPHA:79333
Gracile Syndrome	Renal Fanconi syndrome, Decreased transferrin saturation, Intrauterine growth retardation, Elevat...	ORPHA:53693
Congenital Isolated Acth Deficiency	Hyponatremia, Hepatitis, Neonatal hypoglycemia, Prolonged neonatal jaundice, Hypoglycemic seizure...	ORPHA:199296
Pituitary Hormone Deficiency, Combined, 2	Seizure, Hypoglycemic seizures, Short stature, Neonatal hypoglycemia	OMIM:262600
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Dicarboxylic aciduria, Hyperammonem...	ORPHA:159
9Q31.1Q31.3 Microdeletion Syndrome	Short clavicles, Type II diabetes mellitus, Short stature, Tapered finger, Renovascular hypertens...	ORPHA:401923
Lesch-Nyhan Syndrome	Short stature, Nephrolithiasis, Hyperuricemia, Hyperuricosuria	OMIM:300322
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Metaphyseal dysplasia, Growth delay, Short stature, Elevated circulating creatine k...	OMIM:614727
Hyperlipoproteinemia, Type I	Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom...	OMIM:238600
Peroxisomal Acyl-Coa Oxidase Deficiency	Seizure, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase	OMIM:264470
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Intrauterine growth retardation, Short stature, Maturity-onset diabetes of the young, Small hand,...	ORPHA:96184
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Hepatic fibrosis, Short stature, Nephronophthisis, Glucose intolerance, Impaired gl...	OMIM:615630
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Short iliac bones, Short st...	OMIM:614376
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Bilateral Striopallidodentate Calcinosis	Seizure, Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver	ORPHA:1980
Isolated Polycystic Liver Disease	Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas, M...	ORPHA:2924
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting ...	ORPHA:3337
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Maple Syrup Urine Disease	Elevated circulating L-alloisoleucine concentration, Hypoglycemia, Pancreatitis, Increased level ...	OMIM:248600
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Hypoadrenocorticism, Familial	Seizure, Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Hepatocellular Carcinoma	Hyponatremia, Hypercalcemia, Hepatomegaly, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, ...	ORPHA:88673
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Seizure, 3-Methylglutaconic aciduria, Hypoglycemia, Hyperammonemia	OMIM:614739
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased urinary copper concentration, Increased circulating coppe...	ORPHA:209919
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L...	OMIM:267700
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Intrauterine growth retardation, Methylmalonic aciduria, Lacticaciduria, Growth del...	OMIM:245400
Leigh Syndrome	Seizure, Hepatocellular necrosis	OMIM:256000
Autosomal Recessive Polycystic Kidney Disease	Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary...	ORPHA:731
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Seizure	OMIM:618158
Renal Dysplasia	Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin...	ORPHA:93108
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c...	OMIM:616000
Smith-Magenis Syndrome	Short stature, Abnormality of the urinary system, Hypercholesterolemia, Seizure, Hypertriglycerid...	OMIM:182290
Addison Disease	Hyperkalemia, Hyponatremia, Hypercalcemia, Hypoglycemia, Decreased urinary potassium, Hyperuricem...	ORPHA:85138
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Seizure, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalce...	ORPHA:411634
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Abnormality of the metaphysis, Splenomegaly, Aminoaciduria	ORPHA:417
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Hand polydactyly, S...	OMIM:314390
Galactosemia Iii	Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice	OMIM:230350
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam...	OMIM:271500
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Epiphyseal stippling, Seizure, Elevated circulating aspartate aminotransferase conc...	OMIM:614876
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Craniosynostosis, Postaxial hand...	OMIM:200995
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis, Abnormal B-type natriuretic peptide level	ORPHA:100093
Infantile Liver Failure Syndrome 1	Hepatomegaly, Long fingers, Seizure, Hepatic steatosis, Acute hepatic failure, Long toe, Elevated...	OMIM:615438
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Short stature, Pancreatitis, Hyperglycinemia, Hyperammonemia, Increas...	OMIM:606054
Peroxisome Biogenesis Disorder 3A (Zellweger)	Seizure, Hepatomegaly, Polycystic kidney dysplasia, Epiphyseal stippling	OMIM:614859
Cockayne Syndrome	Renal hypoplasia, Hepatomegaly, Growth delay, Nephrotic syndrome, Abnormality of epiphysis morpho...	ORPHA:191
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Hydronephrosis, Hypoglycemia, Growth delay, Short stature, Increased hepatic glycog...	OMIM:614921
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Seizure, Elevated circulating glutaric acid concen...	OMIM:231670
Timothy Syndrome	Cardiomegaly, Seizure, Hypoglycemia, Hypocalcemia	OMIM:601005
Macrophage Activation Syndrome	Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c...	ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Hyperalaninemia, Hyperprolinemia, Splenomegaly, Status epilepticus, Neonatal hypoglycemia, Increa...	OMIM:619046
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem...	OMIM:603278
Azotemia, Familial	Azotemia	OMIM:109160
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Hypoglycemia	ORPHA:231147
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Bilateral tonic-clonic seizure, Infantile spasms, Elevated circulating creatine kin...	ORPHA:480864
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Abnormal renal physiology, Splenomegaly, Seizure, Increased circulating ferritin co...	ORPHA:540
Porphyria Cutanea Tarda	Increased serum iron, Elevated hepatic iron concentration, Portal inflammation, Chronic hepatitis...	ORPHA:101330
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi...	OMIM:227810
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con...	OMIM:618620
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Growth delay, Macronodular cirrhosi...	OMIM:619418
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Short stat...	ORPHA:73272
Adrenomyodystrophy	Short stature, Abnormality of the urinary system, Megacystis, Seizure, Hepatic steatosis	ORPHA:977
Aicardi-Goutieres Syndrome 9	Portal hypertension, Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Ascites, Gl...	OMIM:619487
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Cholestatic liver disease, Seizure	ORPHA:5
3-Methylglutaconic Aciduria Type 7	Growth delay, Nephrocalcinosis, Myoclonus, Renal cyst, Neonatal hypoglycemia, Seizure, Hepatic st...	ORPHA:445038
Mitochondrial Complex I Deficiency, Nuclear Type 11	Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Tubulointerstitial nephritis, Hyperalaninemia, Hepatic steatosis, Elevated circulat...	OMIM:614582
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Dpm1-Cdg	Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Early onset a...	ORPHA:79322
Lysinuric Protein Intolerance	Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem...	ORPHA:470
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper...	OMIM:151660
Hepatic Veno-Occlusive Disease	Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficie...	ORPHA:890
Glucocorticoid Deficiency 1	Recurrent hypoglycemia, Seizure, Decreased circulating cortisol level	OMIM:202200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Hepatic fibrosis, Cone-shaped epiphysis, Short stature, Nephronophthisis, Renal dys...	OMIM:266920
Congenital Disorder Of Glycosylation, Type Ii	Seizure, Hepatomegaly	OMIM:607906
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Hyperl...	ORPHA:1414
19P13.12 Microdeletion Syndrome	Hypospadias, Intrauterine growth retardation, Hyperlipidemia, Craniosynostosis, Finger syndactyly...	ORPHA:254346
Ddost-Cdg	Short stature, Seizure, Hepatic steatosis, Nephrotic range proteinuria, Elevated hepatic transami...	ORPHA:300536
Kaposiform Lymphangiomatosis	Abnormality of femur morphology, Pancreatic cysts, Fractures of the long bones, Splenomegaly, Abn...	ORPHA:464329
Primary Lipodystrophy	Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Pancreatitis, Splenomegaly, Cirrho...	ORPHA:90970
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Familial Chylomicronemia Syndrome	Hyperlipidemia, Recurrent pancreatitis, Jaundice, Hepatic steatosis, Hepatosplenomegaly, Diabetes...	ORPHA:444490
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia, Short stature, Methylmalonic aciduria, Seizure, Elevated urine suberic acid level	OMIM:248360
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Seizure, Hypoglycemia	OMIM:610006
Molybdenum Cofactor Deficiency, Complementation Group C	Hypouricemia, Bilateral tonic-clonic seizure, Increased urinary taurine, Seizure, Generalized-ons...	OMIM:615501
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Hepatomegaly, Seizure, Ectopic kidney, Abnormality of the kidney	OMIM:613730
Alg9-Cdg	Hepatomegaly, Hydronephrosis, Broad ischia, Radial deviation of the thumb, Abnormal renal artery ...	ORPHA:79328
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly, Adducted thumb, Short stature, Myoclonus, Seizure	OMIM:612015
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Focal segmental glomerulosclerosis, Short stature, Decreased fibular diameter, Gluc...	OMIM:619127
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Growth delay, Short stature, Epiphyseal stippling, Delayed closure of the anterior ...	ORPHA:251009
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Acute Liver Failure	Hypoglycemia, Hepatocellular necrosis, Hepatitis, Hepatic necrosis, Hyperammonemia, Seizure, Acut...	ORPHA:90062
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co...	ORPHA:94093
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Splenomegal...	OMIM:613327
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly	ORPHA:139406
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperammonemia, Hyperalaninemia, Hypoglycemia, Ketonuria	OMIM:615751
Combined Oxidative Phosphorylation Deficiency 40	Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration...	OMIM:618835
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Hepatic fibrosis, Short stature, Proximal placement of thumb, Seizure, Hip dislocat...	OMIM:616263
Combined Oxidative Phosphorylation Deficiency 42	Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration...	OMIM:618839
Beckwith-Wiedemann Syndrome	Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr...	OMIM:130650
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc...	OMIM:618805
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin...	ORPHA:99901
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen...	OMIM:614817
Smith-Magenis Syndrome	Toe syndactyly, Abnormality of the ureter, Short stature, Abnormal localization of kidney, Hyperc...	ORPHA:819
Hyperlipoproteinemia, Type Id	Hepatomegaly, Hyperlipoproteinemia, Splenomegaly	OMIM:615947
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hydronephrosis, Hypoglycemia, Intrauterine growth retardation, Short stature, Growt...	OMIM:608779
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concen...	ORPHA:52430
Lymphoid Interstitial Pneumonia	Hepatomegaly, Rheumatoid arthritis, Clubbing, Enlarged kidney	ORPHA:79128
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro...	OMIM:220111
Primary Pigmented Nodular Adrenocortical Disease	Increased urinary cortisol level, Type II diabetes mellitus, Growth delay, Hyperlipidemia, Glucos...	ORPHA:189439
Combined Oxidative Phosphorylation Deficiency 19	Hepatic steatosis	OMIM:615595
Hirsutism, Skeletal Dysplasia, And Mental Retardation	Coxa valga, Down-sloping shoulders, Joint subluxation, Hyperuricemia	OMIM:142625
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperuricemia	OMIM:102730
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Irregular tarsal ossification, Short stature, Insulin-resistant diabetes mellitus, Epiphyseal dys...	OMIM:226980
Classic Galactosemia	Hepatomegaly, Hypoglycemia, Ascites, Seizure, Hepatic failure, Elevated hepatic transaminase, Del...	ORPHA:79239
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthinuria, Absent urinary urothione, Increased urinary thiosulfate, Decreased urinary urate, In...	OMIM:252150
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Re...	OMIM:212065
Hsd10 Mitochondrial Disease	Seizure, Hypoglycemia	OMIM:300438
Galactose Epimerase Deficiency	Hepatomegaly, Growth delay, Splenomegaly, Aminoaciduria, Jaundice	ORPHA:79238
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con...	ORPHA:449395
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Splenomegaly, Seizure, Atonic seizure, Portal hypertension, Generalized non-motor (...	OMIM:610293
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch...	ORPHA:567983
Alagille Syndrome 1	Renal dysplasia, Prolonged neonatal jaundice, Cirrhosis, Hypertriglyceridemia, Cholestasis, Hypop...	OMIM:118450
Solitary Fibrous Tumor/Hemangiopericytoma	Hypoglycemia, Urinary retention, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent ...	ORPHA:2126
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Hyponatremia, Hypoproteinemia, Increased total bilirubin, Splenomegaly, Seizure, In...	OMIM:603553
3-Methylglutaconic Aciduria, Type V	Hypospadias, Microvesicular hepatic steatosis, Intrauterine growth retardation, Glutaric aciduria...	OMIM:610198
Orthostatic Hypotension 2	Decreased glomerular filtration rate, Hypoglycemia	OMIM:618182
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia, Myoclonic spasms, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Growth ...	OMIM:252160
Hsd10 Disease, Infantile Type	Hypoglycemia, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Abnormality of ...	ORPHA:391428
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Hypoglycemia, Short stature	ORPHA:231137
Endocrine-Cerebroosteodysplasia	Hypospadias, Polydactyly, Postaxial polydactyly, Sandal gap, Preaxial polydactyly, Micropenis, Sy...	OMIM:612651
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Hepatomegaly, Growth delay, Elevated hepatic ...	OMIM:615895
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Increased urinary cortisol level, Hyperlipidemia, Renal cell carcinoma, Glucose intolerance, Incr...	ORPHA:189427
Fructose-1,6-Bisphosphatase Deficiency	Seizure, Hepatomegaly, Increased urinary glycerol, Hypoglycemia	OMIM:229700
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:607398
Infantile Sialic Acid Storage Disease	Hepatomegaly, Nephrotic syndrome, Ascites, Metaphyseal irregularity, Cardiomegaly, Splenomegaly, ...	OMIM:269920
Beckwith-Wiedemann Syndrome	Hypoglycemia, Congenital megaureter, Neonatal hypoglycemia, Splenomegaly, Nephropathy, Hypercalci...	ORPHA:116
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Hypoglycemia, Short stature	ORPHA:48431
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Intrauterine growth retardation, Growth delay, Elevated hepatic...	ORPHA:66634
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Metaphyseal dysplasia, Growth delay, Ascites, Elevated hepatic transa...	ORPHA:1667
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia, Hyperlysinemia, Infantile spasms, Lacticaciduria, Hyperglycemia, Hype...	ORPHA:3008
Combined Oxidative Phosphorylation Deficiency 12	Seizure, Hepatomegaly, Cholestasis, Macrovesicular hepatic steatosis	OMIM:614924
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Insulin resistance, Pancreatitis, Acrooste...	ORPHA:280365
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly	OMIM:618541
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili...	OMIM:616278
Autoimmune Hepatitis	Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Arthritis, Increased total bilirubin, Spl...	ORPHA:2137
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Hepatomegaly, Intrauterine growth retardation, Growth delay, Hyperammonemia, Seizure...	ORPHA:1194
Wilson Disease	Hepatomegaly, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, ...	ORPHA:905
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Immunodeficiency 47	Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Hypercholesterolemia...	OMIM:300972
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Insulin resistance	OMIM:617885
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Splenomegaly, Cirr...	OMIM:608594
Familial Osteodysplasia, Anderson Type	Bifid femur, Aplastic clavicle, Hyperuricemia, Seizure, Aplasia/hypoplasia of the femur, Elbow di...	ORPHA:2769
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Abnormal circulating creatine kinase concentration, Short stature, Micronodular cir...	ORPHA:98907
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria, Growth delay	OMIM:204000
Monosomy 13Q34	Growth delay, Insulin resistance, Osteochondrosis, Hepatic steatosis, Fetal pyelectasis, Infantil...	ORPHA:96168
Hemochromatosis, Type 2B	Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega...	OMIM:613313
Aromatase Deficiency	Type II diabetes mellitus, Growth delay, Hyperlipidemia, Insulin resistance, Delayed epiphyseal o...	ORPHA:91
Hemochromatosis, Type 1	Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Ascites, Glucose intolerance, Cardi...	OMIM:235200
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia, Seizure, Acute hyperammonemia, Hyperglycinuria, Organic aciduria, Ketonuria	OMIM:210210
Donohue Syndrome	Fasting hypoglycemia, Intrauterine growth retardation, Hepatic fibrosis, Long penis, Hyperglycemi...	OMIM:246200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Intrauterine growth retardation, Elevated circulating creatine kinase concentration...	OMIM:619055
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Metatarsus adductus, Intrauterine growth retardation, Elevated circulating long cha...	OMIM:214110
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Seizure, Hypercholesterolemia, Left ventricular hypertrophy	ORPHA:90065
Visceral Steatosis, Congenital	Hypoglycemia, Seizure, Hepatic steatosis, Renal steatosis, Hypocalcemia, Jaundice	OMIM:228100
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa...	ORPHA:882
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Intrauterine growth retardation, Growth delay, Short stature, Recurrent hypogly...	OMIM:616817
Sitosterolemia 1	Elevated circulating sitosterol concentration, Arthritis, Splenomegaly, Hypercholesterolemia, Abn...	OMIM:210250
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Nephrolithiasis, Splenomegaly, Cirr...	OMIM:269700
Chylomicron Retention Disease	Growth delay, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, St...	ORPHA:71
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice	ORPHA:172
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Metatarsus adductus, Intrauterine growth retardation, Epiphyseal stippling, Cubitus...	OMIM:614866
Perlman Syndrome	Hepatomegaly, Seizure, Status epilepticus, Abnormal pancreas morphology, Hypoplasia of penis, Nep...	ORPHA:2849
Amyloidosis, Familial Visceral	Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria	OMIM:105200
Insulinoma	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Reactive hypogly...	ORPHA:97279
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hypospadias, Hepatomegaly, Short stature, Hyperammonemia, 3-Methylglutaconic aciduria	OMIM:604273
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting, Hypoglycemia	OMIM:201910
Temple Syndrome	Recurrent hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus, Short stature	ORPHA:254516
Pituitary Stalk Interruption Syndrome	Hypoglycemia, Short stature, Seizure, Hypoplasia of penis, Delayed puberty	ORPHA:95496
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly	OMIM:618398
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Hypoproteinemia, Growth delay, Hyperlipidemia, Congenital nephrotic syndro...	OMIM:256300
Insulin-Resistance Syndrome Type B	Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Enlarged ovaries, Fasting hyperinsulin...	ORPHA:2298
D-Bifunctional Protein Deficiency	Fetal ascites, Hepatomegaly, Bilateral tonic-clonic seizure, Hammertoe, Bile duct proliferation, ...	OMIM:261515
Mitochondrial Trifunctional Protein Deficiency	Myoglobinuria, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hype...	OMIM:609015
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh...	OMIM:616860
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia	ORPHA:28
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites, Elevated...	ORPHA:275761
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Upper limb undergrowth, Bilateral tonic-clonic seizure, Nephrocalcinosis, Abnormal...	ORPHA:369837
Pearson Syndrome	Lacticaciduria, Hypophosphatemia, Splenomegaly, Seizure, Postnatal growth retardation, Steatorrhe...	ORPHA:699
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Congenital Rubella Syndrome	Hepatomegaly, Intrauterine growth retardation, Short stature, Abnormality of the metaphysis, Pate...	ORPHA:290
Neutral Lipid Storage Myopathy	Hepatomegaly, Abnormal circulating creatine kinase concentration, Short stature, Hepatic steatosi...	ORPHA:98908
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hyperhomocystinemia, Homocystinuria, Pancreatitis, Arachnodactyly, Seizure, Methioninuria, Hepati...	OMIM:236200
Argininemia	Hepatomegaly, Oroticaciduria, Portal fibrosis, Micronodular cirrhosis, Diaminoaciduria, Hyperammo...	OMIM:207800
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr...	OMIM:618549
Interstitial Lung And Liver Disease	Hepatomegaly, Hepatic fibrosis, Clubbing, Hyperammonemia, Cirrhosis, Hepatic steatosis, Elevated ...	OMIM:615486
Galactosemia I	Hepatomegaly, Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased...	OMIM:230400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Seizure, Hepatic steatosis, Decreased liver function	ORPHA:70472
Diabetes Mellitus, Permanent Neonatal, 1	Intrauterine growth retardation, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type ...	OMIM:606176
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heavy proteinuria, Nephrotic syndrome, Patent ductus arteriosus, Hepatosplenomegaly, Urinary glyc...	ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Bile duct proliferation, Myoclonic seizure, Hyperalaninemia, Macrovesicular hepatic...	OMIM:618329
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Glycosuria, S...	ORPHA:436271
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Type II diabetes mellitus, Intrauterine growth retardati...	ORPHA:1133
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Intrauterine growth retardation, Hypoglycemia, Severe postnatal growth retardation, Proportionate...	ORPHA:391408
Obesity Due To Congenital Leptin Deficiency	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia	ORPHA:66628
Biliary Atresia, Extrahepatic	Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd...	OMIM:210500
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
X-Linked Lymphoproliferative Disease	Nephritis, Hepatic necrosis, Fulminant hepatitis, Splenomegaly, Decreased liver function, Increas...	ORPHA:2442
Silver-Russell Syndrome 1	Hypospadias, Urethral valve, Abnormality of the ureter, Fasting hypoglycemia, Intrauterine growth...	OMIM:180860
Mental Retardation, Autosomal Dominant 35	Seizure, Hypoglycemia	OMIM:616355
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Knee dislocation, Hammertoe, Radioulnar dislocation, Joint dislocation, Shoulder d...	ORPHA:536532
Symptomatic Form Of Hemochromatosis Type 1	Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Hype...	ORPHA:465508
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Delayed closure of the anterior fontanelle, Seizure, Cholestasis, Jaundice	OMIM:614887
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Arthritis, Splenomegaly, Hypertriglyceridemia, Finger swelling, Elevated hepatic tr...	OMIM:617591
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Hepatomegaly, Ascites, Patent ductus arteriosus, Renal hypoplasia/aplasia, Renal i...	ORPHA:2123
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Intrauterine growth retardation, Nephrotic syndrome, Splenomegaly, Seizure	OMIM:615846
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Intrauterine growth retardation, Growth delay, Postaxial polydactyly, Elevated circ...	OMIM:614576
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Ketonuria	OMIM:616095
Obesity Due To Leptin Receptor Gene Deficiency	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia	ORPHA:179494
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration	OMIM:603776
Coach Syndrome 1	Hepatomegaly, Hepatic fibrosis, Growth delay, Nephronophthisis, Multiple small medullary renal cy...	OMIM:216360
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Nephrotic syndrome, Membranous nephropathy, Arthritis, Stage 5 chronic kidney disea...	OMIM:615559
Megalocornea-Mental Retardation Syndrome	Short stature, Arachnodactyly, Genu recurvatum, Genu valgum, Hypercholesterolemia, Seizure	OMIM:249310
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Nephrotic syndrome, Hemolytic-uremic syndrome, Focal impaired awareness seizure, Se...	OMIM:619644
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple...	OMIM:607765
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Seizure, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly	OMIM:618278
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria, Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Griscelli Syndrome Type 2

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