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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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