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
Hyperuricemia, Short stature, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transam... OMIM:232200

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

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