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Gene: G6pc1 MGI:95607

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glucose-6-phosphatase catalytic subunit 1
Synonyms:
Glc-6-Pase-alpha,  G6Pase,  Glc-6-Pase,  G6pc,  G6pt

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by G6pc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Short stature, Hyperlipid... OMIM:232200

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:232700
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Increased muscle glycogen content, Growt... OMIM:261750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia, Hyperlipidemia, Seizure, Hyperuricemia ORPHA:364
Acid-Labile Subunit Deficiency
Insulin insensitivity, Reduced insulin like growth factor binding protein acid labile subunit con... OMIM:615961
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature, Hypoglycemia ORPHA:366
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:619868
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Growth dela... OMIM:620211
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Short stature, Splenomegaly, Insulin resis... OMIM:612526
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Short stature, Hyperlipid... OMIM:232200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Hypoglycemia, Abnorm... ORPHA:369
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Seizure, Recurrent hypogl... ORPHA:79299
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Seizure, Hypoglycemia ORPHA:35701
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... OMIM:246450
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic st... ORPHA:436182
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Nephropathy, Chronic kidney disease, Elevated circulating creatinine concentration... OMIM:617056
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal... ORPHA:446
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Generalized-onset seizure, Reactive hypoglycem... ORPHA:35878
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Seizure, Hyposerinemia OMIM:614023
Pituitary Hormone Deficiency, Combined, 4
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia OMIM:262700
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis OMIM:261650
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Shor... OMIM:232220
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulatin... OMIM:619048
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Hypertriglyceridemia, Myoclonus, Hepatomegaly OMIM:615924
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy... OMIM:608709
Fructose And Galactose Intolerance
Seizure, Hypoglycemia OMIM:229500
Short Stature Due To Ghsr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314811
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... ORPHA:2088
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r... ORPHA:79083
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... OMIM:608836
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Seizure, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Inc... OMIM:617872
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Bilateral tonic-clonic seizure, Ele... OMIM:201475
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H... OMIM:616026
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Growth... OMIM:231530
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... ORPHA:26792
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Splen... OMIM:607616
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Seizure, Hypertriglyceridemia OMIM:618010
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:35
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... OMIM:232400
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepatosplenomegaly, Incr... ORPHA:79237
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Seizure, H... ORPHA:348
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... OMIM:251880
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Se... ORPHA:2089
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Morgagni-Stewart-Morel Syndrome
Seizure, Diabetes mellitus, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Decre... OMIM:203800
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Wide anterior fontanel, Generalized amin... OMIM:231680
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Seizure, Organic aciduria OMIM:614741
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper... ORPHA:469
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E... OMIM:137920
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Hyperuricemia ORPHA:543
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome... ORPHA:79259
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Sei... ORPHA:79233
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Seizure, Hyperuri... ORPHA:261222
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... ORPHA:26791
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem... OMIM:232800
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... OMIM:619386
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Fasting hypoglycemia, Short stature, Abnormal circulating selenium concentration ORPHA:171706
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Seizure, H... OMIM:266150
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f... ORPHA:280356
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypoglycemia, Leucine-Induced
Seizure, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... ORPHA:209919
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure, Hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Neonatal hyp... OMIM:240900
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... OMIM:261680
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... OMIM:278000
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Chronic pancreatitis, Hyperlipidemi... OMIM:232240
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Seizure, Dec... OMIM:246900
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... ORPHA:276556
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Seizure, Status epilept... ORPHA:363400
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Increased serum pyruvate, Hypoglycemia, Small for gestational age,... OMIM:615160
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure ORPHA:664
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, H... ORPHA:93111
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Seizure, Hypocalcemia ORPHA:163693
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Short s... OMIM:620010
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... ORPHA:276575
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, F... ORPHA:2394
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:6
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide... OMIM:615238
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Insulin resistance, Seizure, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Seizure, Renal tubular acidosis, Trans... ORPHA:156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... ORPHA:264580
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic acidur... ORPHA:289504
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... ORPHA:276580
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... OMIM:229600
Laron Syndrome
Hypoplasia of penis, Severe short stature, Hypoglycemia, Short toe, Osteoarthritis, Abnormality o... ORPHA:633
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... OMIM:276700
Rotor Syndrome
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Porphyrinuria, Intermittent jaundice, Hyp... ORPHA:3111
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... OMIM:617093
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino... OMIM:227810
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... ORPHA:79240
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... ORPHA:411536
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... ORPHA:79085
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia ORPHA:134
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, Bilateral tonic-... OMIM:618120
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... OMIM:617575
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hyperuricemia, Hprt-Related
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria OMIM:300323
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem... ORPHA:20
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c... OMIM:617950
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... OMIM:615980
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Hyperuricemia ORPHA:371
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ... OMIM:230350
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hyp... ORPHA:90041
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Cirr... ORPHA:528
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Small hand, Short foot, Hyper... ORPHA:254531
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... ORPHA:730
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia ORPHA:214
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Failure to thrive,... ORPHA:79303
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino... OMIM:617253
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Sei... OMIM:616483
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De... ORPHA:79159
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypoglycemia, Myoclonus OMIM:610090
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Hypoglycemia, Focal-onset seizure, Seizure, Status... ORPHA:3006
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypoalbum... OMIM:619013
Lesch-Nyhan Syndrome
Short stature, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Seizure, Hype... OMIM:300322
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Hypoglycemia, Postnatal growth retardation, Seizure, Neonatal hypoglycemia ORPHA:231140
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... ORPHA:890
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res... OMIM:615381
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... ORPHA:94086
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Diabetes mellitu... ORPHA:69663
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia OMIM:617885
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Endocardial Fibroelastosis
Seizure, Hypoplasia of penis, Hypoglycemia ORPHA:2022
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypoglycemia, Cardiomegaly, Hyperammonemia, Seizure, Intrauterine growth retarda... OMIM:614702
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... ORPHA:228308
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... ORPHA:263455
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Bardet-Biedl Syndrome 19
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Patent ductus arteriosus,... OMIM:615996
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Patent ductus arteriosus, Clubbing... OMIM:617303
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Growth delay, Hypocholesterolem... ORPHA:71
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, S... ORPHA:79644
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Short stature, Arachnodactyly, Minimal c... OMIM:618348
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... OMIM:210200
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ... ORPHA:411543
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... OMIM:208540
3-Methylglutaconic Aciduria Type 4
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function ORPHA:67048
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... ORPHA:79096
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancr... ORPHA:435651
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Part... OMIM:616730
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Craniosynost... ORPHA:251004
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Seizure, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Elevated circulating as... OMIM:614727
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Acth Deficiency, Isolated
Decreased circulating cortisol level, Jaundice, Cholestasis, Seizure, Fasting hypoglycemia OMIM:201400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly OMIM:613101
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... ORPHA:263501
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r... ORPHA:435660
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Splenomegaly, Cloni... OMIM:610539
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, He... ORPHA:199299
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... ORPHA:541423
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Seizure, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Down-sloping shoulders, Coxa valga, Postnat... OMIM:248370
Juvenile Paget Disease
Short stature, Hyperuricemia ORPHA:2801
Hereditary Xanthinuria
Crystalluria, Arthropathy, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithi... ORPHA:3467
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Temple Syndrome
Hypertriglyceridemia, Short stature, Small for gestational age, Maturity-onset diabetes of the yo... OMIM:616222
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Seizure, Pancreatic islet-cell hyperplasia, Fasting hypo... ORPHA:276608
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Wide anterior fontanel, Nephroblastoma, Enlarged kidney OMIM:618272
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic... OMIM:251000
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Jaundice, Hyperlipidemia, Hepatosple... ORPHA:444490
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... ORPHA:2924
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... OMIM:212138
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged ki... ORPHA:90301
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Joint hemorrhage, Hyperuricemia ORPHA:35909
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resi... ORPHA:2348
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Hypoglycemia, Hypercalce... ORPHA:95409
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Wide anterior fontanel, Epiphyseal stippling, Seizure, Polycystic kidney dysplasia,... OMIM:614859
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive ORPHA:172
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Mehmo Syndrome
Hypoglycemia, Birth length less than 3rd percentile, Seizure, Delayed puberty, Micropenis OMIM:300148
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Galactose Mutarotase Deficiency
Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive ORPHA:570422
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis, Hyperammonemia OMIM:620137
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Intrauterine growth retardation, Failu... OMIM:618958
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... ORPHA:79086
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... ORPHA:2457
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Seizure, Medium chain... OMIM:201450
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria ORPHA:79238
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Bilateral tonic-clonic seizure, Elevated circulati... OMIM:620300
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Polydactyly, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Seizure, Epiphyseal stippling, Decreased liver function OMIM:614870
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
H Syndrome
Hallux valgus, Diabetes mellitus, Hypertriglyceridemia, Short stature, Abnormality of the kidney,... ORPHA:168569
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Short stature, ... OMIM:239000
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, D... OMIM:262190
Diaphanospondylodysostosis
Nephrogenic rest, Disproportionate short-trunk short stature, Nephroblastomatosis, Horseshoe kidn... OMIM:608022
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Leprechaunism
Hepatomegaly, Enlarged ovaries, Decreased body weight, Postnatal growth retardation, Insulin resi... ORPHA:508
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Hyperalani... OMIM:619355
Mulibrey Nanism
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short digit, Short stature, Metaphyseal spurs, Postaxial polydactyly, Met... OMIM:613091
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:245400
9Q31.1Q31.3 Microdeletion Syndrome
Short stature, Tapered finger, Small hand, Renovascular hypertension, Type II diabetes mellitus, ... ORPHA:401923
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Hyperammonemia, Seizure, 3-Methylglutaconic aciduria, Hyperalaninemia OMIM:614739
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl... OMIM:617156
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre... OMIM:500009
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... ORPHA:99901
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Hypouricemia, Bilateral tonic-clonic seizure, Increased urinary taurin... OMIM:615501
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi... OMIM:614736
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Intrauterine growth retardation ORPHA:1980
Hsd10 Mitochondrial Disease
Seizure, Elevated circulating tiglylglycine concentration, Hypoglycemia OMIM:300438
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... ORPHA:159
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Maturity-onset diabetes of the young, Postnatal growth retardation, Small hand, Sh... ORPHA:96184
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Maple Syrup Urine Disease
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Increased level of hi... OMIM:248600
Hypoadrenocorticism, Familial
Hyponatremia, Seizure, Hyperkalemia, Hypoglycemia OMIM:240200
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Propionic Acidemia
Hepatomegaly, Short stature, Hypoglycemia, Increased level of hippuric acid in urine, Hyperglycin... OMIM:606054
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... OMIM:613070
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Short iliac bones, Meta... OMIM:614376
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... OMIM:614921
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:151660
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... ORPHA:1414
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... ORPHA:199296
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration, Glycogen accumulation in muscle... OMIM:300559
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Gr... OMIM:615453
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79333
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... ORPHA:101330
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Short stature, Splenomegaly, Postaxial hand polydactyly... OMIM:615630
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Abnormal renal morphology, Seizure, Abnormality of the urina... OMIM:182290
Leigh Syndrome
Seizure, Hepatocellular necrosis OMIM:256000
Sandhoff Disease
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Failure to thrive ORPHA:796
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... ORPHA:2126
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria, Short stature ORPHA:417
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Seizure, Recurrent hypoglycemia OMIM:618158
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... ORPHA:98907
Carcinoid Syndrome
Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration, Hepatic necrosis ORPHA:100093
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:230400
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Preaxial hand polydactyly, Seizure, Foot polydactyly, Hepatic steatosis ORPHA:210548
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... OMIM:614300
Adrenomyodystrophy
Short stature, Megacystis, Abnormality of the urinary system, Failure to thrive, Hepatic steatosis ORPHA:977
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... ORPHA:3337
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand... OMIM:252500
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertensi... OMIM:619487
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Renal salt wasti... ORPHA:85138
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hypospadias, Hyperammonemia, Seizure, Status epilepticus, Intrauterine growth retar... OMIM:618253
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Nephrolithiasis, Cystinuria, Seizure, Hypocalcemia, Cystine crystal... OMIM:606407
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Seizure,... OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Status epilepticus, Hyperalaninemia, Neo... OMIM:619046
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... OMIM:609015
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Multifocal seizures, Bilateral tonic-clonic seizure, Elevated circ... ORPHA:480864
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Seizure, Cholestatic liver disease, Hypoketotic hypoglycemia ORPHA:5
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Early onset absence seizures, Sandal gap, Elevated c... ORPHA:79322
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Diabetes mellitus, Renal insuffi... ORPHA:191
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia, Methylmalonic aciduria, Seizure, Elevated urine suberic acid level OMIM:248360
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Seizure, E... OMIM:614876
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... ORPHA:540
Ddost-Cdg
Elevated hepatic transaminase, Short stature, Nephrotic range proteinuria, Failure to thrive, Hep... ORPHA:300536
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, S... ORPHA:445038
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Postaxial hand polydactyly, Hepatic fibrosis... OMIM:200995
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Proximal placement of thumb,... OMIM:616263
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Short stature, Urolithiasis, Gout, Hyperuricosuria, Hyperuricem... OMIM:300661
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Hypoglycemia, Nonketotic hyperglycinemia, Growth delay, Seizure, ... OMIM:220120
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... OMIM:615751
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Small for gestational age, Abnormality of the ureter, Congenital pos... OMIM:180860
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosplen... ORPHA:275761
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:237800
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Toe syndactyly, Renal hypoplasia/aplasia, Abnormality of the... ORPHA:819
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... OMIM:300972
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Hyperlipidemia, S... ORPHA:254346
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:616860
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g... ORPHA:73272
Pituitary Hormone Deficiency, Combined, 6
Short stature, Hypoglycemia, Seizure, Hyperbilirubinemia, Neonatal hypoglycemia OMIM:613986
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulat... ORPHA:94093
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Hypoglycemia, Myoclonus OMIM:618241
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja... OMIM:603553
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid conc... OMIM:231670
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Increased muscle lipid content, Increased muscle glycogen content, Abnormality of t... ORPHA:254864
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbumine... OMIM:602579
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... OMIM:601847
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Intrauterine growth retardation... OMIM:613861
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... OMIM:619127
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Short stature, Delayed closure of the anterior fontanelle, Abnormal limb bone morph... ORPHA:251009
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c... ORPHA:98908
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... ORPHA:464329
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... ORPHA:90062
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Prominent metopic ridge, Rhizomelia, Hepatic cysts, Uret... ORPHA:79328
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Seizure, Ascites, Delayed pu... ORPHA:79239
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione... OMIM:252150
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Bile duct proliferation... OMIM:618329
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Failure to thrive OMIM:269840
Hyperparathyroidism, Transient Neonatal
Wide cranial sutures, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Patent ductus ar... OMIM:618188
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Lymphoid Interstitial Pneumonia
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
Beckwith-Wiedemann Syndrome
Hepatomegaly, Prominent metopic ridge, Nephroblastoma, Cardiomegaly, Pancreatic hyperplasia, Vesi... OMIM:130650
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Seizure, Organic ... OMIM:210210
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy... OMIM:314390
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Elevated circulating creatine kinase concentration, Abnormal long bone morphology,... ORPHA:52430
Fructose-1,6-Bisphosphatase Deficiency
Seizure, Increased urinary glycerol, Hypoglycemia, Hepatomegaly OMIM:229700
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Donohue Syndrome
Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Severe failure to thrive... OMIM:246200
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Growth delay, Hypocalcemia, Ascites ORPHA:100025
Hsd10 Disease, Infantile Type
Hypoglycemia, Cardiomegaly, Hyperammonemia, Seizure, Abnormal concentration of acylcarnitine in t... ORPHA:391428
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Bilateral tonic-clonic seizure, Xanthine nephrolithiasis, Increased urinary sulfite... OMIM:252160
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Hepatomegaly, Short stature, Cone-shaped epiphyses ... OMIM:226980
Polyendocrine-Polyneuropathy Syndrome
Short stature, Elevated hemoglobin A1c, Hypoglycemia, Postnatal growth retardation, Type I diabet... OMIM:616113
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Short stature, Hypoglycemia ORPHA:231137
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy ORPHA:100024
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Ogden Syndrome
Congenital hip dislocation, Generalized-onset seizure, Maternal diabetes, Cardiomegaly, Microvesi... OMIM:300855
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Hypoglycemia ORPHA:48431
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Perineal hy... ORPHA:66634
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Alagille Syndrome 1
Elevated hepatic transaminase, Duplicated collecting system, Failure to thrive, Hypertriglyceride... OMIM:118450
Glycerol Kinase Deficiency
Hypertriglyceridemia, Short stature, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis, Incre... OMIM:307030
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... OMIM:613095
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome, Seiz... OMIM:269920
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... ORPHA:369840
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... ORPHA:1667
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti... OMIM:618892
Werner Syndrome
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Elevated circulating aspartate amin... OMIM:277700
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... ORPHA:234
Orthostatic Hypotension 2
Hypoglycemia, Decreased glomerular filtration rate OMIM:618182
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Glucocorticoid Deficiency 1
Seizure, Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Seizure, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating aspartate aminotransferase c... OMIM:608779
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, A... ORPHA:280365
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Seizure, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... OMIM:613179
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Moderate postnat... ORPHA:69076
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, In... OMIM:606176
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... ORPHA:79319
Beckwith-Wiedemann Syndrome
Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma,... ORPHA:116
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... OMIM:611126
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Failure to thrive OMIM:617591
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Seizure, Aminoaciduria, Status ... OMIM:619055
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Elbow dislocation, Bifid femur, Seizure, Aplasia/hypoplasia of the femur, Hype... ORPHA:2769
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Bilateral t... OMIM:261515
Monosomy 13Q34
Hypercalcemia, Insulin resistance, Fetal pyelectasis, Postaxial hand polydactyly, Growth delay, P... ORPHA:96168
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay, Pancr... ORPHA:289916
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity ORPHA:66628
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... OMIM:619377
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Infant... ORPHA:3008
Leber Congenital Amaurosis 1
Growth delay, Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria OMIM:204000
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjugated hyperbil... OMIM:211600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro... OMIM:619064
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Ascites ORPHA:2123
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:86893
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Seizure, Epiphyseal stippling, Increased circulating very long-chain fa... OMIM:614862
Timothy Syndrome
Seizure, Hypoglycemia, Hypocalcemia, Cardiomegaly OMIM:601005
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Elevated circulating hexacosanoic acid concentration, Wide anterior fontanel, Jaund... OMIM:614872
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Failure to thrive, Pancreatitis ORPHA:79312
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular ... OMIM:618278
Aromatase Deficiency
Enlarged polycystic ovaries, Insulin resistance, Hyperlipidemia, Delayed epiphyseal ossification,... ORPHA:91
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity ORPHA:179494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Arthropathy, Diabetes mellitus, Cardiomegaly, Spleno... OMIM:235200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Renal hypoplasia, Growth delay, Seizure, Recurrent hypoglycemia, Delayed puberty, ... OMIM:616817
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Hyperammonemia, Gr... ORPHA:1194
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Short stature, Hypoglycemia, Seizure, Delayed puberty ORPHA:95496
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... OMIM:266510
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Seizure, Hypoglycemia, Multifocal seizures OMIM:616355
Temple Syndrome
Postnatal growth retardation, Recurrent hypoglycemia, Short stature, Type II diabetes mellitus ORPHA:254516
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Generalized-onset seizure, Proteinuria, Renal cyst, ... OMIM:212065
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Arachnodactyly, Methioninuria, Hyperhomocystinemia, Seizure, Hypermethioninemi... OMIM:236200
Orthostatic Hypotension 1
Neonatal hypoglycemia, Increased blood urea nitrogen, Seizure, Hypomagnesemia, Nocturia OMIM:223360
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Hitchhiker thumb, Hypospadias, Sandal gap, Postaxial polydactyly... OMIM:612651
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Bilateral tonic-clonic seizure, Hypercalcemia, Craniosynostosis, Patent duc... ORPHA:369837
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Short femur, Hypoglycemia, H... ORPHA:17
Argininemia
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... OMIM:207800
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Abnormality of the urinary system, Short stature ORPHA:2204
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites, Weight loss ORPHA:2198
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Hypospadias, Renal salt wasting OMIM:201910
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Metatarsus adductus, Cubitus valgus, Jaundice, Sei... OMIM:214110
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Seizure, Hyp... ORPHA:699
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Isolated Atp Synthase Deficiency
Hepatomegaly, Short stature, Renal hypoplasia, Hyperammonemia, Myoclonic seizure, Seizure, 3-Meth... ORPHA:254913
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, In... ORPHA:2609
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Aredyld Syndrome
Hepatomegaly, Short stature, Splenomegaly, Abnormality of the ureter, Abnormal pelvic girdle bone... ORPHA:1133
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation... ORPHA:391408
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Congenital Rubella Syndrome
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Patent ductus arteriosus, Seizure, Type I di... ORPHA:290
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Hepatomegaly, Recurrent urinary tract infections, Short stature, Postnatal gro... OMIM:620210
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Cog8-Cdg
Elevated hepatic transaminase, Seizure, Hypoglycemia, Myoclonus ORPHA:95428
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Griscelli Syndrome Type 2
Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Seizure ORPHA:79477
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu... OMIM:238970
Microtriplication 11Q24.1
Joint dislocation, Short stature, Metatarsus adductus, Hyperlipidemia, Small hand, Genu valgum, S... ORPHA:289522
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, Ne... ORPHA:505248
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Wide anterior fontanel, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:194080
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Growth delay, Seizure, 3-Methylglutaconic aciduria, Myoclonus, Intrauterine growth re... OMIM:616271
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... ORPHA:298
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Neuhauser Syndrome
Arachnodactyly, Genu recurvatum, Short stature, Genu valgum, Seizure, Hypercholesterolemia OMIM:249310
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Seizure, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614576
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Growth delay, Hepatomegaly, Elevated circulating creatine kinase concentration, Delayed puberty OMIM:615704
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... OMIM:216360
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Joint dislocation, Diabetes mellitus, Hypertriglyceridemia, Arachnodactyly, Sandal... ORPHA:536532
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... ORPHA:77293
Immunodeficiency 97 With Autoinflammation
Recurrent urinary tract infections, Hypertriglyceridemia, Splenomegaly, Increased circulating fer... OMIM:619802
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase... OMIM:615559
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate... OMIM:614034
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Seizure, Hypoglycemia, Multifocal seizures OMIM:617710
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney dis... OMIM:608612
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Atreti... ORPHA:30391
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Cardi... OMIM:256550
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Short stature, Hypoglycemia, Hypospadias, Hyper... OMIM:617053
Pituitary Hormone Deficiency, Combined, 2
Seizure, Neonatal hypoglycemia, Short stature, Hypoglycemic seizures OMIM:262600
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... OMIM:616878
Citrullinemia, Classic
Hepatomegaly, Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication... OMIM:215700
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... ORPHA:158048
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Intr... OMIM:614602
Wolman Disease
Hepatomegaly, Cachexia, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic failure ORPHA:75233
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Hypoalbuminemia, Hypochole... OMIM:270400
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Brachydactyly, Hypospadias, Short statur... ORPHA:2959
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir... ORPHA:230
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-... OMIM:619471
Megalocornea-Intellectual Disability Syndrome
Short stature, Tapered finger, Seizure, Metatarsus valgus, Hypercholesterolemia, Genu varum ORPHA:2479
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi... OMIM:612714
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Proteinuria, Short stature, Minimal change glomerulonephritis, Ab... ORPHA:1830
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Sei... ORPHA:173
Infantile Refsum Disease
Hepatomegaly, Very long chain fatty acid accumulation, Short stature, Elevated circulating phytan... ORPHA:772
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Mitochondrial Trifunctional Protein Deficiency
Equinus calcaneus, Cholestasis, Seizure, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepa... ORPHA:746
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Cardiomegaly, Seizure, Ascites, Enlarged kidney OMIM:261740
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Congenital hip dislocation, Renal agenesis, Block vertebrae, Cardiomegaly, Asplenia... OMIM:306955
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, ... OMIM:243910
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia OMIM:619313
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Focal-onset seizure, Intrauterine growth retardation, Hypoglycemia, Clonic seizure OMIM:620275
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Renal insufficiency, Decrea... ORPHA:85450
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... OMIM:309000
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Abnormal metacarpophalangeal jo... ORPHA:465508
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Abnormal mus... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia OMIM:616672
Shashi-Pena Syndrome
Hypoglycemia, Unilateral renal agenesis, Seizure, Intrauterine growth retardation, Febrile seizur... OMIM:617190
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia OMIM:615962
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Short stature, Sandal gap, Broad hallux, Tapered finger, Toni... OMIM:615873
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Failu... OMIM:604273
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Hypospadias, Postnatal growth retardation, Microphallus, Intrauterine growth retard... ORPHA:397590
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ... ORPHA:14
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:256040
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hip dislocation, Hepatosplenomegaly, Seizure, Polycystic kidney dysplasia, Ascites OMIM:608776
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ... ORPHA:500095
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Intrauterine growth reta... OMIM:609981
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To... OMIM:619881
Griscelli Syndrome Type 1
Seizure, Hyperlipidemia ORPHA:79476
Shigellosis
Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Peritonitis,... ORPHA:810
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic ... OMIM:613489
Sitosterolemia 1
Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol concentration, Xanthel... OMIM:210250
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:614887
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Hypoglycemia, Renal insuffi... ORPHA:79282
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Growth delay, Abnormal epiphysis morphology, Pr... ORPHA:90674
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Postaxial h... OMIM:607361
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia, Seizure, Pancreatitis ORPHA:27
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome, Ascites ORPHA:834
Eisenmenger Syndrome
Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Patent ... ORPHA:97214
Xp21 Deletion Syndrome
Growth delay, Seizure, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Microvesicular hepatic steatosis, Shoulder dislocation, Hypotriglycer... ORPHA:404454
Atypical Werner Syndrome
Short palm, Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Short stature, Rocker bottom... ORPHA:79474
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Failure to thrive, Hypoglycemi... OMIM:613658
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Impaired glucose tolerance, Insulin resistance, Fasting hyperins... ORPHA:769
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss ORPHA:42642
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Knee dislocation, Hepatic fibrosis, Hypoalbuminemia, Intrahepatic ... OMIM:619534
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... ORPHA:534
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... ORPHA:829
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Short stature, Metaphyseal scle... OMIM:260400
Methanol Poisoning
Type I diabetes mellitus, Seizure, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Short stature, Decreased body weight OMIM:231000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Overlapping fingers, H... OMIM:301056
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia, Intrauterine growth retardation OMIM:610678
Post-Traumatic Pituitary Deficiency
Growth delay, Hypoglycemia, Delayed puberty ORPHA:95619
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Asci... OMIM:618183
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Nephrocalcinosis, Seizure, Intrauterine growth retardation OMIM:618005
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia... OMIM:266200
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Portal vein hypoplasia, Ascites OMIM:619433
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Seizure ORPHA:90790
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedullary different... OMIM:618541
Leigh Syndrome
Hyperalaninemia, Hypoglycemia, Infantile spasms, Lacticaciduria, Methylmalonic aciduria, Generali... ORPHA:506
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Fasting hypoglycemia ORPHA:436174
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst, Epiphyseal stippling, Seizure, Hepatic fibrosis, Cirrhosis OMIM:601539
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Smith-Kingsmore Syndrome
Seizure, Rhizomelia, Hypoglycemia OMIM:616638
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Hepatic necrosis OMIM:127550
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Hepatomegaly OMIM:133180
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... OMIM:615356
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Cholestasis, Hypo... OMIM:608104
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Mild postnatal growth retardation, Congenital hip dislocation, P... ORPHA:456312
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Ketotic h... ORPHA:361
Rauch-Steindl Syndrome
Hepatomegaly, Short stature, Prominent crus of helix, Postnatal growth retardation, Bilateral ren... OMIM:619695
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Hypospadias, Hypoglycemia, Small for gestational age, Hypocalcemia, Micropenis, Failu... OMIM:607143
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay OMIM:615631
Beta-Thalassemia Intermedia
Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenome... ORPHA:231222
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul... OMIM:228000
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Hypouricemia ORPHA:760
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Myoclonic seizure, Growth delay, Seizure, Aminoaciduria, Myoclonus,... OMIM:614946
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Renal hypoplasia, Genu valgum, Azotemia, Intrauterine growth retardation, Micropen... OMIM:619321
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Hepatomegaly OMIM:603902
Bloom Syndrome
Syndactyly, Elevated hemoglobin A1c, Postnatal growth retardation, Growth delay, Hand polydactyly... OMIM:210900
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
Argininosuccinic Aciduria
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:207900
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Patent ductus arte... ORPHA:488618
Tangier Disease
Left ventricular hypertrophy, Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
Immunodeficiency 42
Splenomegaly, Hepatomegaly OMIM:616622
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Failure to thrive, Short stature, Intrauterine growth retardation ORPHA:50812
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Hepatomegaly, Hypospadias, ... OMIM:312870
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Generalized-onset seizure, Conjugated hyperbilirubinemia, Re... OMIM:614866
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia ORPHA:507
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia, Large for gestational age OMIM:619075
Congenital Disorder Of Glycosylation, Type Im
Seizure, Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Foot polydactyly, Nephroblastoma, Enlarged kidney ORPHA:276280
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micropenis, Seizure, Hypocholesterolemia OMIM:618810
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Papillary... ORPHA:363618
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Failure to thrive OMIM:615085
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Short stature, Prolonged neonatal jaundice OMIM:233600
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Generalized-onset seizure, Hypospadias, Focal-onset seizure, Seizure, Neonatal hypoglycemia ORPHA:457485
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Nephroblastomatosis, ... OMIM:267000
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Short stature, Elevated circulating C-reactive protein concentration, Arthritis, Se... OMIM:619423
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Seizure, Severe intrauterine growth retardation, Hyperglycemia, ... OMIM:609069
C Syndrome
Hepatomegaly, Short metacarpal, Toe syndactyly, Short stature, Postaxial hand polydactyly, Patent... OMIM:211750
Immunodeficiency 32B
Splenomegaly, Hepatomegaly, Failure to thrive, Hypoalbuminemia OMIM:226990
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Short 5th metacarpal, H... ORPHA:99413
Mosaic Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Short 5th metacarpal, H... ORPHA:99228
Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Short 5th metacarpal, H... ORPHA:99226
Turner Syndrome
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Short 5th metacarpal, H... ORPHA:881
Griscelli Syndrome
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lip... ORPHA:381
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Hypospadias, Hypoglycemia, Splen... OMIM:252010
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Hepatitis, He... OMIM:194380
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... OMIM:251110
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Failure to thrive OMIM:618495
Tenorio Syndrome
Seizure, Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri... OMIM:239200
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Epilepsia partialis continua,... OMIM:203700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Silver-Russell Syndrome
Hypospadias, Short stature, Cachexia, Failure to thrive in infancy, Postnatal growth retardation,... ORPHA:813
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Hypercalcemia, Short stature, Small for gestational age, Splenomega... OMIM:618440
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Short stature, Urinary incontine... ORPHA:263487
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Meacham Syndrome
Accessory spleen, Patent ductus arteriosus, Enlarged kidney, Horseshoe kidney OMIM:608978
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Small for gestational age, Insulin re... OMIM:606721
Glycogen Storage Disease Xii
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Ja... OMIM:611881
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Metaphyseal widening, ... ORPHA:73230
Basilicata-Akhtar Syndrome
Seizure, Neonatal hypoglycemia OMIM:301032
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... OMIM:606003
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal sal... ORPHA:90791
Xylt1-Cdg
Joint dislocation, Hepatomegaly, Short stature, Coxa valga, Flared metaphysis, Growth delay, Shor... ORPHA:370930
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Hypoglycemia, Infantile spasms, Generalized non-motor (absence) s... OMIM:620224
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... ORPHA:167
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Wiedemann-Rautenstrauch Syndrome
Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Hepatic steatosis, Long toe, Hypo... ORPHA:3455
Cryoglobulinemic Vasculitis
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Splenomegaly, He... ORPHA:91138
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia OMIM:619053
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiectasis, Abnormal r... ORPHA:1655
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hepatitis, Nephrotic sy... OMIM:615846
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Familial Multiple Lipomatosis
Insulin resistance, Seizure, Hyperlipidemia, Bowing of the long bones ORPHA:199276
Cystinosis, Nephropathic
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... OMIM:219800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, Nephronophthis... OMIM:266920
Kabuki Syndrome 2
Short stature, Postnatal growth retardation, Horseshoe kidney, Seizure, Intrauterine growth retar... OMIM:300867
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Me... OMIM:251100
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration ORPHA:85414
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, General... OMIM:300868
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Opsismodysplasia
Hepatomegaly, Severe short stature, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplasti... ORPHA:2746
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen... OMIM:311250
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... OMIM:619525
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Short stature, Small for gestational age, Cystathioninuria,... OMIM:277380
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Failure to thrive ORPHA:99931
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Cardiac-Urogenital Syndrome
Accessory spleen, Penoscrotal hypospadias, Patent ductus arteriosus, Hepatopulmonary fusion, 2-3 ... OMIM:618280
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... ORPHA:100085
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Growth delay, ... OMIM:617388
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Hypospadias, Short stature, Small for gestational age, Splenomeg... OMIM:222470
Alagille Syndrome
Hepatomegaly, Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormality of the ureter, Choles... ORPHA:52
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Hyperbil... OMIM:613673
Mcleod Syndrome
Hepatomegaly, Generalized-onset seizure, Elevated circulating aspartate aminotransferase concentr... OMIM:300842
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As... ORPHA:83469
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Splenomegaly, Weight loss... ORPHA:77297
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Hydronephrosis, Neonatal hypoglycemia ORPHA:35173
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Seizure, Abnormal renal co... OMIM:617397
Intellectual Developmental Disorder, Autosomal Dominant 68
Broad hallux, Urinary incontinence, Patent ductus arteriosus, 2-3 toe syndactyly, Joint contractu... OMIM:619934
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Short stature, Abnormal fingertip morphology, Insulin resistance, Hyperlipidemia, Ost... ORPHA:90154
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... ORPHA:57777
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Bowing of the long bones, Pancreatic cysts, Abnormali... ORPHA:1318
Multiple Sulfatase Deficiency
Hepatomegaly, Broad hallux phalanx, Short stature, Splenomegaly, Seizure, Mucopolysacchariduria, ... ORPHA:585
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Multifocal seizures, Hypoglycemia, Hepatosplenomegaly, Seizure, Cholecystitis, Chol... OMIM:301066
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, Hepatomega... ORPHA:171
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Mild postnatal growth retardation, Small for gestational age, Splenomegaly, Hyperbi... OMIM:224120
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Seizure, Neonatal hypoglycemia ORPHA:565624
Alg12-Cdg
Elevated hepatic transaminase, Hyponatremia, Hypospadias, Recurrent hypoglycemia, Hypoalbuminemia... ORPHA:79324
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Abnormal morphology of the radius, Renal agenesis, Ap... ORPHA:2538
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Hepatomegaly, Flexion contracture of finger, Short stature, Rocker bottom foot, Ca... OMIM:602782
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Cardiomegaly, Renal cyst, Failure to thrive ORPHA:137675
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Abnormal urinary color ORPHA:56425
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Prominent metopic ridge, Intrahepatic cholesta... ORPHA:46059
Beta-Thalassemia Major
Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice,... ORPHA:231214
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:616689
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Insulinoma, Increased circulating cor... OMIM:131100
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Small for gestational age, Postnatal growth retardation, Insulin resistance, Horsesh... ORPHA:96182
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice OMIM:185000
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... OMIM:557000
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Unilateral renal agenesis, Postn... OMIM:620305
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Oroticaciduria, Hepatitis, Hypera... ORPHA:415
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Splenomegaly, Decreased serum zinc, Failure to thrive OMIM:201100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ab... ORPHA:168558
Sotos Syndrome
Abnormality of the kidney, Seizure, Glucose intolerance, Prolonged neonatal jaundice, Neonatal hy... OMIM:117550
Glutaryl-Coa Dehydrogenase Deficiency
Infantile spasms, Glutaric aciduria, Chronic kidney disease, Seizure, Fasting hypoglycemia ORPHA:25
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Narrow... OMIM:602557
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short stature, Insulin resistance, Hyperlipidemia, Osteolytic defects of the distal phalanges of ... ORPHA:90153
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Abnormality of the kidney, Camptodactyly of fing... ORPHA:1606
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ab... ORPHA:289548
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... ORPHA:85443
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Lysinuric Protein Intolerance
Hepatomegaly, Failure to thrive, Hypolysinemia, Short stature, Splenomegaly, Increased circulatin... OMIM:222700
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Hyposthenuria ORPHA:91355
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis... OMIM:220111
Ollier Disease
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology ORPHA:296
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Seizure, Hypoglycemia ORPHA:457279
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Hematuria, Growth delay, ... ORPHA:77259
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,... OMIM:608885
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Splenomegaly, Short to... OMIM:269860
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... ORPHA:391665
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, Splenomegaly, Pat... OMIM:188400
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia... ORPHA:373
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Hypoglycemia ORPHA:95613
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... ORPHA:64
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Hypoglycemia, Elevated circulating creatine k... ORPHA:99826
Biotinidase Deficiency
Hepatomegaly, Splenomegaly, Hyperammonemia, Seizure, Organic aciduria OMIM:253260
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Hepatomegaly, Rhizomelia, Malformat... OMIM:218330
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Intrauterine growth retardation, Seizure, Multifocal seizures ORPHA:572798
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Hypospadias, Infantile spasms, Abnormal abdomen morphology, Jaundi... OMIM:619475
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... ORPHA:97283
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Cerebral Visual Impairment
Seizure, Neonatal hypoglycemia ORPHA:447788
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:308552
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Elevated circulating C-reactive protein... OMIM:612852
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Failure to thriv... ORPHA:2162
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia, Increased circulating cortisol level, Hypoglycemia ORPHA:786
Omenn Syndrome
Splenomegaly, Hepatomegaly, Failure to thrive, Hypoproteinemia OMIM:603554
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Weight loss ORPHA:33577
Syndromic Diarrhea
Hepatomegaly, Short stature, Small for gestational age, Splenomegaly, Renal hypoplasia, Abnormali... ORPHA:84064
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Short sternum, Hypoplasti... OMIM:620076
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Fetal ascites, Multiple jo... OMIM:619503
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Hypertriglyceridemia, Hypospadias, Short stature, Short femur, Delayed c... OMIM:264090
Hereditary Spherocytosis
Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemia, Cholelithiasis ORPHA:822
Shwachman-Diamond Syndrome 2
Hepatomegaly, Short stature, Metaphyseal widening, Genu varum, Steatorrhea, Hyperechogenic pancre... OMIM:617941
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... OMIM:232300
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Growth delay, Short stature, Hypoglycemia OMIM:616007
Bannayan-Riley-Ruvalcaba Syndrome
Seizure, Short stature, Hypoglycemia ORPHA:109
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... ORPHA:97282
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Metaphyseal chondr... ORPHA:811
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... OMIM:603903
Geleophysic Dysplasia 1
Short palm, Hepatomegaly, Short stature, Camptodactyly of finger, Coxa valga, Short foot, Seizure... OMIM:231050
Deeah Syndrome
Hepatomegaly, Short stature, Decreased body weight, Intrauterine growth retardation, Micropenis, ... OMIM:619004
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Seizure, Hypoglycemia OMIM:614501
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... ORPHA:97278
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Hypoglycemia, Overweight, Growth delay, Prolonged neonatal jaundice, Abnormal... ORPHA:226307
Cranioectodermal Dysplasia 2
Cholangitis, Renal cyst, Hepatomegaly, Syndactyly, Short stature, Rhizomelia, Patent ductus arter... OMIM:613610
Menkes Disease
Hypoglycemia, Bladder diverticulum, Seizure, Prolonged neonatal jaundice, Intrauterine growth ret... ORPHA:565
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hyperlipidemia, Abnormal femur m... ORPHA:324
Oculodentodigital Dysplasia
Seizure, Neurogenic bladder, Hypoglycemia ORPHA:2710
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hyperchol... ORPHA:273
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Pat... OMIM:617088
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Generalized non-motor (absence)... ORPHA:293978
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Peritonitis, S... OMIM:249100
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Growth delay, Seizure, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal... OMIM:617248
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... ORPHA:97280
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Porphyria, Congenital Erythropoietic
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphyrin... OMIM:263700
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi... OMIM:613471
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... ORPHA:97261
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Fail... OMIM:219700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Short stature, Neonatal hypoglycemia, Renal s... ORPHA:90794
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyponatremia, Short stature, Hyperlipidemia, Hyperkalemia, Enuresi... ORPHA:293987
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Renal agenesis ORPHA:1848
Holoprosencephaly 1
Seizure, Micropenis, Short stature, Hypoglycemia OMIM:236100
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Postnatal growth retard... ORPHA:96191
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Hypoglycemia, Small for gestatio... OMIM:201750
Woodhouse-Sakati Syndrome
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Growth delay, Delayed pube... ORPHA:3464
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hepatomegaly, Hypospad... OMIM:243800
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Short stature, Hypoglycemia, Growth delay, Delayed puberty ORPHA:90695
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus, Micropenis OMIM:241080
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Bilateral tonic-clonic seizure, Hypercalcemia, Hypospa... ORPHA:821
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Hypoglycemia, Growth delay, Seizure, Delayed puberty ORPHA:95494
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Costello Syndrome
Renal insufficiency, Failure to thrive, Hypoglycemia, Short stature OMIM:218040
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Failure to thrive, Growth delay, Extrahepatic portal hypertension, Hepa... ORPHA:2929
Encephalocraniocutaneous Lipomatosis
Seizure, Abnormal cartilage morphology, Osteochondrosis ORPHA:2396
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation OMIM:175050
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Cirrhosis OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Cirrhosis OMIM:187300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for G6pc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to G6pc1.

No publications found that use IMPC mice or data for G6pc1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
G6pc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
G6pc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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