Gene: G6pc1 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 subunit 1

Synonyms:

Glc-6-Pase-alpha, G6Pase, Glc-6-Pase, G6pc, 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 G6pc1 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 G6pc1 (1 diseases)
Human diseases predicted to be associated with G6pc1 (960 diseases)

The table below shows human diseases associated to G6pc1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Glycogen Storage Disease Ia		Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow...	OMIM:232200

The table below shows human diseases predicted to be associated to G6pc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati...	OMIM:232700
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic g...	OMIM:261750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Seizure, Hyperlipidemia, Hyperuricemia, Short stature	ORPHA:364
Acid-Labile Subunit Deficiency	Reduced insulin like growth factor binding protein acid labile subunit concentration, Delayed pub...	OMIM:615961
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Short stature, Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketot...	ORPHA:293964
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Seizure, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abno...	ORPHA:263458
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ...	OMIM:615703
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole...	OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 8	Growth delay, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic ...	OMIM:620211
Short Stature Due To Partial Ghr Deficiency	Short stature, Delayed puberty, Hypoglycemia, Growth delay	ORPHA:314802
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow...	OMIM:232200
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati...	OMIM:613027
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia, Seizure	ORPHA:35701
Congenital Glucokinase-Related Hyperinsulinism	Seizure, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal cir...	ORPHA:79299
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia	ORPHA:67046
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Severe short-limb dwarfism, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyce...	ORPHA:436182
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Hyposerinemia, Intrauterine growth retardation, Seizure	OMIM:614023
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre...	OMIM:617056
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Generalized non-m...	ORPHA:35878
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage...	OMIM:617610
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:620357
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis	OMIM:261650
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232220
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Severe postnatal growth retardation, Short stature, Hypoglycemia	OMIM:262700
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:619048
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Severe short stature, Intrauterine growth retardation, Hypoglycemia	OMIM:223500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Myoclonus, Seizure, Hypertriglyceridemia	OMIM:615924
Glycogen Storage Disease V	Failure to elevate lactate upon ischemic exercise test, Dark urine, Hyperuricemia, Elevated circu...	OMIM:232600
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol...	OMIM:608709
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Fructose And Galactose Intolerance	Hypoglycemia, Seizure	OMIM:229500
Short Stature Due To Ghsr Deficiency	Short stature, Delayed puberty, Hypoglycemia, Growth delay	ORPHA:314811
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp...	OMIM:603471
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, ...	OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Fanconi-Bickel Syndrome	Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat...	ORPHA:2088
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Hepatic steatosis, Hyperur...	ORPHA:79083
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Growth delay, Hypoglycemia, Severe short stature	OMIM:262400
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Seizure	OMIM:240600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica...	OMIM:201475
Propionic Acidemia	Hepatomegaly, Organic aciduria, Hyperammonemia, Hypoglycemia	ORPHA:35
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep...	OMIM:231530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat...	ORPHA:26792
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for...	ORPHA:324575
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Splenomegaly, H...	OMIM:607616
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Hyperthreoninemia, Increased serum bile acid concentration, Cirrhosis, Elevat...	OMIM:605814
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch...	ORPHA:79237
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Seizure, Hy...	ORPHA:348
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip...	OMIM:232400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G...	ORPHA:2089
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Seizure, Elevated circulating creatinine concentration, Renal i...	ORPHA:79233
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia	OMIM:246650
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Mitochondrial Pyruvate Carrier Deficiency	Organic aciduria, Hypoglycemia, Seizure, Hepatomegaly, Increased serum pyruvate	OMIM:614741
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Seizure, Hyperuricemia, Diabetes mellitus	ORPHA:77296
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Seizure, Renal insufficiency, Reactive hypoglycemia, Hyp...	ORPHA:469
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the liver, Hyperuricemia, Abnormality of the pancreas	ORPHA:543
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto...	OMIM:246450
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Abnormal circulating selenium concentration, Fasting hypoglycemia, Growth delay	ORPHA:171706
Pyruvate Carboxylase Deficiency	Hypoglycemia, Seizure, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased ...	OMIM:266150
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:615382
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Hypertriglyceridemia, ...	ORPHA:79259
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Seizure, Vesicoureteral reflux, Hyperuricemia, Proteinuri...	ORPHA:261222
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypoglycemia, Seizure, Elevated circulating aspartate aminotransferase concentrati...	OMIM:619386
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic...	OMIM:618400
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Elevate...	OMIM:232800
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant di...	ORPHA:280356
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Re...	OMIM:603860
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Xanthelas...	OMIM:232240
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Seizure, Hypoglycemia, Hepatic steato...	OMIM:261680
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 4	Seizure, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepato...	OMIM:603552
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan...	OMIM:608600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Seizure, Hypoketotic hypoglycemia, Hyper...	OMIM:600649
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD...	OMIM:278000
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, E...	ORPHA:26791
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Fasting hypoglycemia, Bilateral tonic-clonic seizure, Hypoinsulinemia, Neonatal hyp...	OMIM:240900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia,...	OMIM:613845
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Seizure, Decreased liver f...	OMIM:246900
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia, Seizure	OMIM:240800
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Organic aciduria, Hyperammonemia, Abnormal circulating leucine concentration	ORPHA:6
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Splenomegaly, Hyperammonemia	ORPHA:664
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Seizure, Hyperinsulinemia, Myoclonus, Hepatic steatosis, Cirrhosis, Hypertrig...	ORPHA:363400
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ...	OMIM:606069
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Combined Malonic And Methylmalonic Acidemia	Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Seizure, Hypogly...	ORPHA:289504
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Reactive ...	ORPHA:276556
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl...	ORPHA:71529
Acquired Partial Lipodystrophy	Insulin resistance, Seizure, Hepatic steatosis, Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:79087
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Seizure, Hypoglycemia, ...	ORPHA:156
Fanconi-Bickel Syndrome	Hypouricemia, Postnatal growth retardation, Hyperbilirubinemia, Increased serum bile acid concent...	OMIM:227810
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoac...	OMIM:615238
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Failure to thrive,...	OMIM:229600
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276575
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu...	OMIM:604387
2P21 Microdeletion Syndrome	Hypoglycemia, Seizure, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth delay	ORPHA:163693
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Seizure, Dicarboxylic aciduri...	OMIM:255120
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Increased body weight, Myoglobinuria, Cirrhosis, Hepatomegaly, Po...	ORPHA:264580
Laron Syndrome	Severe short stature, Short toe, Hypoglycemia, Hypercholesterolemia, Brachydactyly, Osteoarthriti...	ORPHA:633
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f...	OMIM:617093
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276580
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly	ORPHA:134
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein...	ORPHA:85445
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ...	ORPHA:209919
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration...	ORPHA:209902
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insufficienc...	OMIM:276700
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Dicarbo...	OMIM:212140
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,...	ORPHA:79085
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c...	OMIM:618120
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch...	ORPHA:247598
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concen...	OMIM:617950
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact...	OMIM:230350
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Hyperuricemia	ORPHA:371
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Re...	ORPHA:20
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Alstrom Syndrome	Nephritis, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes me...	OMIM:203800
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogl...	OMIM:617575
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Immunodeficiency 114, Folate-Responsive	Seizure, Increased circulating ferritin concentration, Postnatal growth retardation, Splenomegaly...	OMIM:620603
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Mody	Nephropathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Abnormality of the kidney, Eleva...	ORPHA:552
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c...	OMIM:201450
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Maturity-onset diabetes of the young, Clinodactyly, Postnatal growth retardation, Int...	ORPHA:254531
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Seizure, Acute hepatic fai...	OMIM:616483
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hy...	ORPHA:90041
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Congenital Generalized Lipodystrophy	Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hyperchole...	ORPHA:528
Seckel Syndrome 10	Insulin resistance, Severe short stature, Cone-shaped epiphysis, Glycosuria, Slender long bone, E...	OMIM:617253
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Obesity, Xanthelasma, Increased LDL cholesterol concentr...	ORPHA:412
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat...	ORPHA:53693
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena...	ORPHA:890
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu...	OMIM:606528
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Myoclonus, Seizure	OMIM:610090
Lesch-Nyhan Syndrome	Nephrocalcinosis, Seizure, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Short statur...	OMIM:300322
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit...	ORPHA:228308
Pyridoxine-Dependent Epilepsy	Focal aware motor seizure, Focal myoclonic seizure, Seizure, Hypoglycemia, Early onset absence se...	ORPHA:3006
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit...	OMIM:614227
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Seizure, Ascites, Intrauterine growth retardation, Hyperammonemia, Cardiomegaly, Hy...	OMIM:614702
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:614582
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, E...	OMIM:615381
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Seizure, Postnatal growth retardation, Short stature, Neonatal hypoglycemia	ORPHA:231140
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Arthritis, Uric a...	ORPHA:411543
Endocardial Fibroelastosis	Hypoglycemia, Hypoplasia of penis, Seizure	ORPHA:2022
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr...	OMIM:617049
Blue Diaper Syndrome	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Inc...	ORPHA:94086
Pyridoxal Phosphate-Responsive Seizures	Seizure, Hypoglycemia, Myoclonus, Abnormal circulating arginine concentration, Abnormal circulati...	ORPHA:79096
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H...	ORPHA:263455
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to th...	OMIM:210200
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat...	OMIM:618805
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Clinodactyly, IgA depositi...	OMIM:618348
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepat...	ORPHA:435651
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Growth delay, Seizure, Elevated circulating aspartate aminotransferase conc...	OMIM:614727
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Growt...	ORPHA:541423
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Seizure, Recurrent hy...	ORPHA:79644
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina...	ORPHA:3467
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Bardet-Biedl Syndrome 19	Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Renal insufficiency, He...	OMIM:615996
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro...	OMIM:208540
Paternal Uniparental Disomy Of Chromosome 1	Seizure, Myoclonus, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoprolifer...	ORPHA:251004
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia, Seizure	ORPHA:94124
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Splenomegaly, Acetabular dysplasi...	OMIM:617303
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Intrauterine growth retardation, Elevated circulating creatine kinase concentration...	OMIM:618838
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Clinodact...	OMIM:616730
Juvenile Paget Disease	Short stature, Hyperuricemia	ORPHA:2801
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria	OMIM:615026
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, 3-Methylglutaconic aciduria, Failure to thrive, Decreased liver function	ORPHA:67048
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Elevated circulating ...	ORPHA:435660
Isolated Polycystic Liver Disease	Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal...	ORPHA:2924
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration	OMIM:613101
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevate...	OMIM:256810
Obesity And Hypopigmentation	Obesity, Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Femoral bowing, Hepatic ...	OMIM:615415
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia, Seizure	OMIM:607250
Acth Deficiency, Isolated	Seizure, Cholestasis, Decreased circulating cortisol level, Fasting hypoglycemia, Jaundice	OMIM:201400
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Erlenmeyer flask deformity of the femurs, Seizure, Hypocholesterolemia, Hypersplenism, Bilateral ...	OMIM:610539
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hepatitis, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia...	ORPHA:199299
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hematuria, Macroscopic hematuria, Abnorma...	OMIM:248250
Temple Syndrome	Maturity-onset diabetes of the young, Intrauterine growth retardation, Obesity, Hypercholesterole...	OMIM:616222
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	OMIM:618010
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Joint hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Renal insufficiency, Failure to thrive	ORPHA:28
Galactose Mutarotase Deficiency	Failure to thrive, Decreased liver function, Cholestasis, Hepatomegaly, Hypergalactosemia	ORPHA:570422
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Peroxisome Biogenesis Disorder 3A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Seizure, Epiphyseal stippling, He...	OMIM:614859
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Insulin-resistant diabetes mellitus, Delayed cranial suture closu...	OMIM:248370
Xanthinuria, Type I	Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin...	OMIM:278300
Non-Acquired Isolated Growth Hormone Deficiency	Microphallus, Delayed puberty, Short stature, Abdominal obesity, Prolonged neonatal jaundice, Neo...	ORPHA:631
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature	ORPHA:172
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Seizure, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell...	ORPHA:276608
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Wide anterior fontanel	OMIM:618272
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia, Hypoglycemia	OMIM:620137
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormal renal physiolo...	ORPHA:158057
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Enlarged polycystic ovaries, Enlarged kidney, Insulin-resistant diabetes mell...	ORPHA:90301
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Splenomegaly, Hepatic steatosis, Glomerulopathy, Pancreatitis, Hypertriglycer...	ORPHA:2348
Acute Adrenal Insufficiency	Seizure, Hypoglycemia, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased circulating co...	ORPHA:95409
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxylic aciduria, Sei...	OMIM:212138
Mehmo Syndrome	Hypoglycemia, Seizure, Birth length less than 3rd percentile, Delayed puberty, Micropenis	OMIM:300148
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Hsd10 Mitochondrial Disease	Hypoglycemia, Seizure, Elevated circulating tiglylglycine concentration	OMIM:300438
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis	OMIM:222730
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Failure to thrive, Increased muscle lipid content,...	OMIM:500009
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli...	ORPHA:2457
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammone...	OMIM:620300
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Peroxisome Biogenesis Disorder 6A (Zellweger)	Seizure, Decreased liver function, Epiphyseal stippling, Renal cyst, Hepatomegaly	OMIM:614870
Galactose Epimerase Deficiency	Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 47	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Intraut...	OMIM:618958
Molybdenum Cofactor Deficiency, Type C	Hypouricemia, Increased urinary taurine, Hypocystinemia, Generalized-onset seizure, Bilateral ton...	OMIM:615501
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia, Lateral femoral bowing, Bowing of the long b...	OMIM:239000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Intrauterine growth retardation, Disprop...	OMIM:608022
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney, Polydactyly	OMIM:613885
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
H Syndrome	Hepatosplenomegaly, Camptodactyly, Hallux valgus, Short stature, Delayed puberty, Hypertriglyceri...	ORPHA:168569
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Seizure, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia	OMIM:614739
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Seizure, Hypo...	ORPHA:157
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia, Methylmalonic aciduria, Elevated circulating aspartate aminotran...	OMIM:245400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Methylmalonic aciduria, Stage 5 chronic kidney disease, Hypergly...	OMIM:251000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg...	OMIM:262190
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Short iliac bones, Elevated circulating creatinine concentration, A...	OMIM:614376
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
9Q31.1Q31.3 Microdeletion Syndrome	Small hand, Type II diabetes mellitus, Short clavicles, Hypercholesterolemia, Short stature, Reno...	ORPHA:401923
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul...	ORPHA:470
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Renal dysplasia, Preaxial polydactyly, Acetabular spurs...	OMIM:613091
Mulibrey Nanism	Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature	ORPHA:2576
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:613070
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete...	OMIM:618620
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Failure to thrive, ...	ORPHA:508
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver	ORPHA:1980
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Seizure, Hyperglycinemi...	OMIM:606054
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small hand, Maturity-onset diabetes of the young, Clinodactyly, Postnatal growth retardation, Int...	ORPHA:96184
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri...	OMIM:619418
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia, Seizure, Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hy...	OMIM:614736
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes...	OMIM:615812
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Ketonuria, Failure to thrive, Hypoglycem...	OMIM:615453
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr...	OMIM:615558
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula...	ORPHA:100093
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Glucose...	OMIM:615630
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neonatal hypoglycemia, ...	OMIM:619046
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Seizure, 2-ethylhydracylic aciduria	OMIM:610006
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Failure to thrive,...	OMIM:230400
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n...	ORPHA:199296
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Seizure, Postnatal growth retardation, H...	ORPHA:79333
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype...	OMIM:151660
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ...	OMIM:614921
Leigh Syndrome, Nuclear	Seizure, Hepatocellular necrosis	OMIM:256000
Methylmalonic Aciduria, Cblb Type	Ketonuria, Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration...	OMIM:251110
Macrocephaly-Intellectual Disability-Autism Syndrome	Seizure, Preaxial hand polydactyly, Penile freckling, Hepatic steatosis, Foot polydactyly	ORPHA:210548
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive, Abnormal glycosphingolipid metabolism	ORPHA:796
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Hyperkalemia, Seizure	OMIM:240200
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Seizure, Recurrent hypoglycemia	OMIM:618158
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Splenomegaly, Aminoaciduria	ORPHA:417
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Seizure, Exocrine pancreatic insufficiency, Ulnar deviation of the 2nd finger, ...	OMIM:616263
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Carpal bone hypoplasia, Hepatomegaly, ...	OMIM:252500
Cockayne Syndrome	Severe short stature, Urinary incontinence, Renal hypoplasia, Elevated circulating hepatic transa...	ORPHA:191
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Glycogen Storage Disease Ixd	Hypoglycemia, Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration,...	OMIM:300559
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Seizure, Intrauterine growth retardation, Hyperammonemia, Hypospadias, Status epile...	OMIM:618253
D-Glyceric Aciduria	Aminoaciduria, Seizure, Status epilepticus, Hypoglycemia, Focal clonic seizure, Myoclonus, Bilate...	OMIM:220120
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu...	OMIM:614817
Adrenomyodystrophy	Abnormality of the urinary system, Failure to thrive, Megacystis, Hepatic steatosis, Short stature	ORPHA:977
Macrophage Activation Syndrome	Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio...	ORPHA:158061
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Sandal gap, Seizure, E...	ORPHA:79322
Solitary Fibrous Tumor	Urinary retention, Hypoglycemia, Pelvic mass, Recurrent hypoglycemia, Hypophosphatemic rickets, N...	ORPHA:2126
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Peroxisome Biogenesis Disorder 8A (Zellweger)	Seizure, Elevated circulating aspartate aminotransferase concentration, Epiphyseal stippling, Hep...	OMIM:614876
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Addison Disease	Type I diabetes mellitus, Seizure, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulati...	ORPHA:85138
Smith-Magenis Syndrome	Abnormality of the urinary system, Seizure, Abnormal renal morphology, Hypercholesterolemia, Brac...	OMIM:182290
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Seizure, Renal insufficiency, Hepatic steatosis, Rena...	OMIM:614922
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:480864
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Short stature, Uric acid...	OMIM:300661
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hypoglycemia, Seizure, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:5
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Seizure, Elevated circulating aspartate aminotransferase concentration...	OMIM:610198
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Postaxial hand polydactyly, Hepatome...	OMIM:200995
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Glome...	OMIM:619487
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Seizure, Postnatal growth retardation, Hypocalcemia, Nephrolithiasis, Cysti...	OMIM:606407
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Sh...	ORPHA:300536
Pituitary Hormone Deficiency, Combined, 6	Hypoglycemia, Seizure, Hyperbilirubinemia, Short stature, Neonatal hypoglycemia	OMIM:613986
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Seizure, Renal insuffi...	ORPHA:445038
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Hypoglycemia	ORPHA:231147
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia, Seizure, Short stature	OMIM:248360
Glutaric Acidemia I	Glutaric aciduria, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglyce...	OMIM:231670
Wolman Disease	Acute hepatic failure, Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:620151
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in infancy, Cachexia, Weight ...	ORPHA:275761
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia, Postnatal growth retardation, Intr...	ORPHA:73272
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Finger syndactyly, Sandal gap, Seizure, Intrauterine growth retardation, Hyperl...	ORPHA:254346
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H...	OMIM:613327
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Conj...	OMIM:601847
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr...	OMIM:603553
Smith-Magenis Syndrome	Toe syndactyly, Seizure, Abnormality of the ureter, Renal hypoplasia/aplasia, Hand polydactyly, H...	ORPHA:819
Silver-Russell Syndrome 1	Abnormality of the ureter, Intrauterine growth retardation, Nephroblastoma, Fasting hypoglycemia,...	OMIM:180860
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ...	ORPHA:94093
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con...	ORPHA:98908
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Hypospadias, Hypoglycemia	OMIM:201910
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Failure to thrive, Rena...	OMIM:602579
Long-Olsen-Distelmaier Syndrome	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:620609
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circul...	OMIM:615486
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Decreased urinary urate, Increased urinary taurine, Seizure, Increased urinary hypo...	OMIM:252150
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndr...	OMIM:256300
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c...	ORPHA:254864
Igg4-Related Kidney Disease	Chronic kidney disease, Abnormal mesentery morphology, Urethritis, Hematuria, Weight loss, Tubulo...	ORPHA:449395
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Myoclonus, Seizure	OMIM:618241
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglyc...	ORPHA:90062
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Seiz...	OMIM:210210
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Growth delay, Seizure, Epiphyseal stippling, Abnormal limb bone morphol...	ORPHA:251009
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infections, Ele...	OMIM:613179
Retinitis Pigmentosa 59	Elevated circulating hepatic transaminase concentration, Failure to thrive, Intrauterine growth r...	OMIM:613861
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Sand...	OMIM:619127
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Kaposiform Lymphangiomatosis	Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Abnorma...	ORPHA:464329
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly	ORPHA:46532
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Glucocorticoid Deficiency 2	Myoclonic seizure, Hypoglycemia, Recurrent hypoglycemia, Myoclonus, Decreased circulating cortiso...	OMIM:607398
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ...	OMIM:615595
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased liver function, Intrauterine growth retardation, Elevated circulating cre...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased liver function, Intrauterine growth retardation, Elevated circulating cre...	OMIM:618839
Alg9-Cdg	Periportal fibrosis, Rhizomelia, Hypoplasia of the bladder, Flared metaphysis, Delayed cranial su...	ORPHA:79328
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Seizure, Hypoglycemia, ...	ORPHA:79239
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Decreased urinary urate, Increased urinary taurine, Seizure, Increased urinary hypo...	OMIM:252160
Lymphoid Interstitial Pneumonia	Hepatomegaly, Weight loss, Enlarged kidney, Failure to thrive	ORPHA:79128
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:618329
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi...	ORPHA:234
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Gluco...	ORPHA:189427
Infantile Sialic Acid Storage Disease	Seizure, Ascites, Splenomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Nephro...	OMIM:269920
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Hsd10 Disease, Infantile Type	Hypoglycemia, Seizure, Hyperammonemia, Abnormality of the lower urinary tract, Cardiomegaly, Abno...	ORPHA:391428
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Growth delay	ORPHA:100025
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Urinary bladder sphincter dysfunction, Abnormal long bone morphology, Hepatic steatosis, Elevated...	ORPHA:52430
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Wolcott-Rallison Syndrome	Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Elevated c...	ORPHA:1667
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Insulin-resistant diabetes mellitus, Ivory epiphyses of the toes, Genu valg...	OMIM:226980
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius, Proximal placem...	OMIM:314390
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Long penis, Cholestasis, Postnatal growth retardati...	OMIM:246200
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis...	OMIM:614377
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom...	OMIM:266510
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Growth delay, Seizure, Hypoglycemia, Hyperglycemia, Infantile spasms...	ORPHA:3008
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hepatic steatosis, Spl...	OMIM:608594
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Wide c...	OMIM:618188
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninuria, Growth delay, Hyperthreoninemia	OMIM:204000
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Short stature, Postnatal growth retardation, Hypoglycemia	ORPHA:231137
Ogden Syndrome	Delayed cranial suture closure, Postnatal growth retardation, Hyperbilirubinemia, Jaundice, Macro...	OMIM:300855
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:100024
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Postnatal growth retardation, Short stature, Elevated hem...	OMIM:616113
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Seizure, Increased urinary glycerol	OMIM:229700
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega...	OMIM:619064
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration	OMIM:618398
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Duplicated collecting system, Hepatic failure, Elevated circu...	OMIM:118450
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Intrah...	OMIM:211600
Werner Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:277700
Prader-Willi Syndrome	Small hand, Clinodactyly, Radial deviation of finger, Decreased HDL cholesterol concentration, Se...	OMIM:176270
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Seizure	OMIM:608688
Orthostatic Hypotension 2	Decreased glomerular filtration rate, Hypoglycemia	OMIM:618182
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Hypertr...	OMIM:617591
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Growt...	ORPHA:289916
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Elbow dislocation, Seizure, Hyperuricemia, Aplasia/hypoplasia of ...

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