Gene Summary

Name:
glucokinase
Synonyms:
hexokinase 4,  Gls006,  Hlb62,  MODY2,  HK4

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Gckem1(IMPC)H HET Early adult 4.07×10-18
increased circulating fructosamine level Gckem1(IMPC)H HET Early adult 4.12×10-10
increased circulating glucose level Gckem1(IMPC)H HET Early adult 7.60×10-14
impaired glucose tolerance Gckem1(IMPC)H HET Early adult 8.24×10-14
increased fasting circulating glucose level Gckem1(IMPC)H HET Early adult 3.63×10-09
preweaning lethality, incomplete penetrance Gckem1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Gck 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 predicted to be associated to Gck by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... OMIM:606176
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Delayed puberty, Decreased serum insulin-like growth factor 1,... OMIM:615961
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomeg... OMIM:232700
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Familial Renal Glucosuria
Glycosuria, Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary t... ORPHA:69076
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Cataract 47
Glycosuria OMIM:612018
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, E... ORPHA:552
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Hypertriglyceridemia 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance ORPHA:140941
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal enz... ORPHA:171706
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Ketonuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Ketonuria, Failure to thrive, Short stature, Postprandial hyper... ORPHA:2089
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Diabet... ORPHA:79084
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Type II d... OMIM:618620
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Intrauterine growth retardation, Small for gestational age, Abnormality of... ORPHA:99886
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Fanconi Renotubular Syndrome 3
Glycosuria, Proteinuria, Growth delay, Hyperphosphaturia, Aminoaciduria, Short stature OMIM:615605
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Fasting hypoglycemia, Hepatic fail... ORPHA:2088
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Increased LDL cholesterol concentrat... OMIM:615703
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Hypoglycemia, Central hypothyroidism OMIM:616113
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Fanconi Renotubular Syndrome 2
Glycosuria, Generalized aminoaciduria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency OMIM:613388
Glucose/Galactose Malabsorption
Glycosuria, Abnormal oral glucose tolerance OMIM:606824
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Type 1 Diabetes Mellitus
Polyuria, Hyperglycemia, Diabetes mellitus OMIM:222100
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Renal Fanconi syndrome, Hyperinsulinemia... ORPHA:263455
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, H... OMIM:605814
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Type I diabetes mellitus OMIM:618856
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Hypoglycemia, Nephrocalcinosis, Proteinuria, Hepatomegaly,... OMIM:616026
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatic failure, Hepatomegaly, Hy... OMIM:617872
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276575
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Sp... OMIM:612526
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyp... OMIM:604367
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Fanconi Renotubular Syndrome 1
Glycosuria, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Renal insuffic... OMIM:134600
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hyperglycemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hypoglycemia, Hepatomegaly ORPHA:35
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Increased C-peptide level, Decre... ORPHA:71212
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Hepatic steatosis, Hypoglycemia, Renal cortical cysts, Pro... OMIM:231680
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypoglycemic seizures, Neonatal hypoglycemia, Hypothyroidism, Panhypopitui... OMIM:262600
Seckel Syndrome 10
Glycosuria, Insulin resistance, Elevated circulating luteinizing hormone level, Elevated hemoglob... OMIM:617253
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovari... ORPHA:280356
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Diabetes mellitus, Type II diabetes mellitu... ORPHA:181393
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia, Splenomegaly ORPHA:664
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71526
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intolerance, Impaired gluc... OMIM:606069
Acth Deficiency, Isolated
Fasting hypoglycemia, Cholestasis, Decreased circulating cortisol level, Adrenal hypoplasia, Jaun... OMIM:201400
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepat... ORPHA:276556
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased hepatocellular lipid droplets, Renal Fanconi syndrome, Renal tubular dysfun... OMIM:220110
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Polycystic ovaries, Elevated circulating growth hormone concentration, Insuli... ORPHA:90301
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Decreased liver funct... ORPHA:436271
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive, Increased level of methylsuccinic aci... ORPHA:26792
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Intrauterine growth retardation, Hydronephrosis, Decreased liver function, Dup... OMIM:617093
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619048
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Decreased adip... OMIM:615238
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adiponectin level,... ORPHA:79085
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperinsulinemia, Cholestasis, Pancreatic ... OMIM:246200
Mahvash Disease
Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased g... OMIM:619290
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Wilson Disease
Glycosuria, Hepatic failure, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciu... OMIM:277900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:79087
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Decreased liver function, Elevated hepatic transaminase OMIM:246900
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransfe... OMIM:619386
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Biliary cirrhosis, Fasting hypoglycemia, Weight loss, Insulin ... ORPHA:2298
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hemochromatosis, Neonatal
Hepatic failure, Hypoglycemia, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice,... OMIM:231100
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypoglycemia, Hyperuricosuria, Hypercalciuria, Bicarbonatu... ORPHA:3337
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Failure ... OMIM:220111
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Polycystic ovaries, Abnormality ... ORPHA:1227
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Proximal tubulopath... OMIM:229600
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Myoglobinuria, Growth delay, Dicarboxylic aciduria, Hep... OMIM:231530
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Adrenal hypop... ORPHA:199296
Renal Cysts And Diabetes Syndrome
Glycosuria, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Exocrine pancr... OMIM:137920
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Hemochromatosis Type 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Diabetes mellitus, Hypogonadism, Abno... ORPHA:79230
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased urinary copper concentration ORPHA:209919
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Proteinuria, Jaundice, Aminoaci... OMIM:210550
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Renal tubular dysfunction, Moderate albuminuria, Intrauterine growth retardation, Pan... ORPHA:99885
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Hyperglycemia OMIM:609069
Body Mass Index Quantitative Trait Locus 19
Insulin resistance OMIM:617885
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:278000
Blue Diaper Syndrome
Recurrent hypoglycemia, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ... ORPHA:94086
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Decrease... ORPHA:179494
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus OMIM:144800
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plas... OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Proximal Renal Tubular Acidosis
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, G... ORPHA:47159
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Jaundice OMIM:616483
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Hyperphosphaturia, Failure to t... OMIM:227810
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity OMIM:618160
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Hyperhidrosis ORPHA:231147
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Elevated hepatic... ORPHA:369
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis,... OMIM:261680
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hepatic fibrosis OMIM:232400
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Decreased adiponectin level, Insulin-resistant d... ORPHA:435651
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Postprandial hyper... ORPHA:681
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid concentration, ... OMIM:615980
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Hyperinsulinemia ORPHA:791
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:202200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Type II diabetes mellitus, Hypergonadotropi... ORPHA:3085
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Glucose intolerance, Elevated hemoglobin A1c OMIM:616539
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia ORPHA:2849
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension,... OMIM:251880
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hepatitis, Hypertriglyc... OMIM:300635
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Precocious puberty, Congenital hypothyroidism OMIM:614736
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Medium chain dicarboxylic aciduria, Hepatomegaly, Elevated hepat... OMIM:201450
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thymus, Hype... ORPHA:589
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adiponectin level,... ORPHA:435660
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Panhypopituitarism, Decr... ORPHA:95619
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia, Hyperhidrosis ORPHA:231140
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Failure to thrive, Portal fibrosis, Ele... OMIM:614300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Hypoketotic hypoglycemia... OMIM:600649
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypothyroidism, Hypogonadotropic hypogonadism, Port... ORPHA:465508
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Cirrhosis ORPHA:363400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... ORPHA:228305
Juvenile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Proteinuria, Proximal tubulopathy, Chronic kidney disease, Gr... ORPHA:411634
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Failure to t... OMIM:256810
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, En... ORPHA:785
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Hypothyroidism, Hepatic failure, Lacticaciduria, P... ORPHA:699
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Hypoglycemia, Male hypogonadism, Delayed p... OMIM:300148
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase OMIM:618958
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Elevated hepatic transaminase ORPHA:289504
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypertrigl... OMIM:619013
Cystinosis, Nephropathic
Glycosuria, Exocrine pancreatic insufficiency, Hypohidrosis, Proteinuria, Polyuria, Male hypogona... OMIM:219800
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activi... ORPHA:79237
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase ORPHA:156
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Insulin resistance, Hepatomegaly, Elevated hepatic transaminase, Diabetes mell... OMIM:615381
Tropical Pancreatitis
Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarcinoma, A... ORPHA:103918
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Hepatomegaly, Jaundice, Elevated circulating creatine kinase conce... ORPHA:26793
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Infantile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Low-molecular-w... ORPHA:411629
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Insu... OMIM:151660
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
2P21 Microdeletion Syndrome
Hypoglycemia, Hypogonadism ORPHA:163693
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Cirrhosis, Hepatic fibrosis OMIM:271500
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Eleva... OMIM:617049
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Portal hypertension, Severe postnatal growth retardation, Chole... ORPHA:440713
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Insulin resistance, Hyperinsulinemia, Hypercholeste... ORPHA:528
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia OMIM:600955
Temple Syndrome
Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Abnormal enzyme/coenzyme activity, Pancreatic calcification, Di... ORPHA:676
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Splenomegaly, Hepatomegaly, Insulin-re... ORPHA:79083
Primary Lipodystrophy
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Splenomegaly, Type II diabetes mellitu... ORPHA:90970
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Intrauterine growth retardation, Pos... OMIM:610198
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Gracile Syndrome
Hepatic steatosis, Renal Fanconi syndrome, Intrauterine growth retardation, Cholestasis, Elevated... ORPHA:53693
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Hypoglycemia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus,... ORPHA:95496
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Diabetes ... ORPHA:412
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Ddost-Cdg
Hepatic steatosis, Primary hypothyroidism, Short stature, Elevated hepatic transaminase, Nephroti... ORPHA:300536
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Ketonuria OMIM:210200
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated urinary 3-hydro... ORPHA:42
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Renal agenesis, Hypothyroidism, Hepatic steatosis, H... ORPHA:93111
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatom... ORPHA:370
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Splenome... ORPHA:567983
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase ORPHA:2394
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, ... ORPHA:79086
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hyperga... ORPHA:247598
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Hyperlipidemia, Recurrent pancreatitis, Hepatosplenomegaly... ORPHA:444490
Summitt Syndrome
Obesity OMIM:272350
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase OMIM:611126
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Reduced C-... ORPHA:2126
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Megacystis, Short stature, Abnormality of the u... ORPHA:977
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Splenomegaly, Hepatomegaly, Diabetes m... ORPHA:2348
Short Syndrome
Birth length less than 3rd percentile, Intrauterine growth retardation, Small for gestational age... OMIM:269880
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Classic Galactosemia
Hepatic failure, Hypoglycemia, Hepatomegaly, Jaundice, Abnormal enzyme/coenzyme activity, Elevate... ORPHA:79239
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Decreased plasma carnitine, Hepa... OMIM:201475
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Mpi-Cdg
Hypothyroidism, Portal hypertension, Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia ORPHA:79319
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Adrenocortical hypoplasia OMIM:307030
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Renal cyst, Cholestasis, Hepatomegaly, Jaundice, Giant cell h... ORPHA:79303
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function OMIM:618835
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenom... ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function OMIM:618839
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating alanine aminotransferase conce... ORPHA:158061
Laron Syndrome
Hypohidrosis, Hypoglycemia, Abnormality of the endocrine system, Delayed puberty ORPHA:633
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Splenomegaly, ... ORPHA:158057
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... ORPHA:79240
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:245400
Temple Syndrome
Recurrent hypoglycemia, Decreased response to growth hormone stimulation test, Type II diabetes m... ORPHA:254516
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... ORPHA:1414
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid adenoma, Elevated ci... OMIM:131100
Silver-Russell Syndrome Due To 11P15 Microduplication
Intrauterine growth retardation, Small for gestational age, Severe intrauterine growth retardatio... ORPHA:231144
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Hyperhidrosis ORPHA:231137
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Calcinosis, Hyperglycemia,... OMIM:248370
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease ORPHA:5
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Ketonuria, Hyperglycemia, Weight loss ORPHA:134
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Chronic hepatitis, Portal inflammation, ... ORPHA:101330
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Intrauterine growth retardation, Cholesta... ORPHA:541423
Cog8-Cdg
Hypoglycemia, Elevated hepatic transaminase ORPHA:95428
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Nephrocalcinosis, Neonatal hypoglycemia, Hepatic steatosis, Renal cyst, 3-Methylg... ORPHA:445038
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Elevated circulating creati... OMIM:212138
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Alstrom Syndrome
Hypothyroidism, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, Tubulointerstitial nephr... OMIM:203800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Hypocalcemia, Jaundice, Neonatal death OMIM:228100
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Abnor... ORPHA:348
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Chr... OMIM:614921
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... ORPHA:567548
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Hypoch... ORPHA:71
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dec... ORPHA:99901
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia OMIM:618398
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Intrauterine growth retardation, Ureteral duplication, Pancreatic... OMIM:600001
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Hypogonadism ORPHA:73272
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Hypoglycemia, Central adrenal insufficienc... OMIM:615577
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Abnormal response to corticotropin releasing hormone stimulation test, Macrono... ORPHA:189427
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Renal neoplasm, Hyperinsulinemia, Delayed puberty, Insulin-resista... ORPHA:79474
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypogonadism OMIM:617575
Tyrosinemia, Type I
Enlarged kidney, Hypoglycemia, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Pa... OMIM:276700
Hyperlipoproteinemia, Type V
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Diabete... OMIM:144650
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Placental Insufficiency
Insulin resistance ORPHA:439167
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Short stature, Decreased serum insulin-like growth factor 1, Postnatal growth retard... OMIM:618985
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Obesity OMIM:609734
Leprechaunism
Enlarged kidney, Fasting hypoglycemia, Nephrocalcinosis, Insulin resistance, Hyperinsulinemia, Ce... ORPHA:508
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Acute kidney injury, Elevated circulating aspartate aminotransfer... ORPHA:466677
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hypothyroidism, Portal hypertension, Hepatic steatosis, Hepatosplenomegaly, P... OMIM:619487
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Nephrolithiasis, Increased urinary cortisol level, Growth delay, Paradoxical i... ORPHA:189439
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Decreased liver function... OMIM:614922
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Abnormal ci... ORPHA:98907
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:615486
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Elevated cir... OMIM:613327
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia, Perineal hypospadias, In... ORPHA:66634
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglycemia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Aciduria, Hepatic failure, Bile duct proliferation, 3-Methylglu... OMIM:203700
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:606054
Silver-Russell Syndrome
Insulin resistance, Cryptorchidism, Recurrent hypoglycemia, Decreased testicular size, Premature ... ORPHA:813
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Splenomegaly, Hepatomegaly, Decreased ... ORPHA:280365
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Decreased circulating cortisol level, Jaundice, Abnormal circulating androgen level... ORPHA:90790
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Jaundice, S... ORPHA:540
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Micropenis, Hypercalciuria, Adrenal hypoplasia, Postnatal growth... OMIM:614732
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age OMIM:615935
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypergonadotropic h... OMIM:606407
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Osteootohepatoenteric Syndrome