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Gene: Gk MGI:106594

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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:
glycerol kinase
Synonyms:
D930012N15Rik,  Gyk

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 Gk 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 Gk by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycerol Kinase Deficiency
Hypertriglyceridemia, Short stature, Increased urinary glycerol, Hypoglycemia, Chronic pancreatit... OMIM:307030

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:232700
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... OMIM:262700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short statu... OMIM:610717
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Proteinuri... ORPHA:369
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis OMIM:261650
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, 3-Methylglutaconic aciduria, Hypoglycemia, Hepatomegaly ORPHA:67046
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... OMIM:614480
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay, Attention def... OMIM:620211
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... OMIM:619386
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Short Stature Due To Ghsr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314811
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic st... ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... ORPHA:293964
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Int... ORPHA:26792
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short stature, Splenomegaly, Insulin resis... OMIM:612526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Polyphagia, Hypoglycem... ORPHA:276580
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Insulin resistance, Type II diabetes mellitus, Hypercholesterolemia, Hepati... OMIM:615703
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... ORPHA:276556
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Diffuse... ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Agitat... ORPHA:276608
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Aggressive behavior, Inabili... OMIM:300148
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Growth delay, Decreased circulating free T3, Fasting hypoglycemia, Increased circu... ORPHA:171706
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Aggressive behavior, Hyperlipidemia, Hyperinsulinem... ORPHA:329249
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hyperlipidemia, Hepatic... OMIM:232400
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia OMIM:240800
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased muscle glycogen ... OMIM:261750
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function OMIM:616829
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... OMIM:619048
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Gait disturbance OMIM:618400
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... OMIM:608709
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Abnormal localization of kidney, Prolonged neonatal ja... ORPHA:446
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera... ORPHA:2088
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis OMIM:620357
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Growth... OMIM:231530
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria OMIM:606528
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... OMIM:201450
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Polyphagia OMIM:620195
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype... ORPHA:156
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f... ORPHA:280356
Acth Deficiency, Isolated
Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency, Cholestas... OMIM:201400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Proportionate short ... ORPHA:71212
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperinsulinemia, Hyperhidrosis, Renal ... ORPHA:263455
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, ... ORPHA:363400
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Short stature, Hypoglycemia ORPHA:364
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Decreased liver function, Leth... OMIM:246900
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... OMIM:261680
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoplasia of penis, Hypoglycemia ORPHA:2022
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... OMIM:604367
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Hypoglycemia, Postnatal growth retardation, Hyperhidrosis, Neonatal hypoglycemia ORPHA:231140
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Hypoglycemia, Mesangial h... OMIM:617575
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hepatic failure, Hepatic steatosis OMIM:617872
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Short stature, Hepatosple... OMIM:619013
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... ORPHA:79644
Riboflavin Deficiency
Lethargy, Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Citrullinemia Type Ii
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hypertriglyceridemia, Hepatomegaly, A... ORPHA:247585
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hypoglycemia, 3-Methylglutaconic aciduria, Gait imbalance, Lethargy OMIM:618120
3-Methylglutaconic Aciduria, Type V
Ataxia, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal gro... OMIM:610198
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hypoglycemia ORPHA:35
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypoglycemia OMIM:610090
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased urinary copper concentration, Copper accumulation in liver, Cirrhosis ORPHA:209919
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Hypoglycemia, Hepatocell... OMIM:232200
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Hypoglycemia OMIM:614741
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotr... OMIM:278000
Rotor Syndrome
Bilirubinuria, Jaundice, Intermittent jaundice, Porphyrinuria, Storage in hepatocytes ORPHA:3111
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, A... ORPHA:2394
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:245400
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Acute hepatic steatosis,... OMIM:210200
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Postnatal growth retardatio... ORPHA:254516
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Hypoglycemia, I... ORPHA:264580
Hsd10 Mitochondrial Disease
Restlessness, Hypoglycemia, Aggressive behavior, Choreoathetosis, Agitation OMIM:300438
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, D... OMIM:262190
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Postnatal growth r... ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... OMIM:618839
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Diabetes mellitus, Hepatic steatosis OMIM:615980
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dysphagia, Intrauterine growth retarda... OMIM:618958
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Diabetes mellitus, Elevated circu... OMIM:617253
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia, Hyperhidrosis ORPHA:231147
Pyruvate Carboxylase Deficiency
Athetosis, Hypoglycemia, Proximal renal tubular acidosis, Hepatomegaly OMIM:266150
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure, Hypoglycemia ORPHA:664
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... ORPHA:79085
Laron Syndrome
Hypoplasia of penis, Severe short stature, Hypoglycemia, Hypohidrosis, Delayed puberty, Hyperchol... ORPHA:633
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hep... OMIM:201475
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Polyphagia, ... OMIM:606407
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Lethargy, Hypoketo... OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Inability to walk, Athetosis, Gait disturbance, Loss of ambulation OMIM:618241
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Short stature,... OMIM:616026
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Adrenocorticotropin defic... ORPHA:199296
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Jaundice, Gait disturbance, Ga... ORPHA:79239
Mody
Abnormality of the kidney, Transient neonatal diabetes mellitus, Nephropathy, Insulin-resistant d... ORPHA:552
2P21 Microdeletion Syndrome
Growth delay, Hypoglycemia, Nephrolithiasis, Cystinuria ORPHA:163693
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Unsteady gait, Gait ataxia OMIM:618158
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Short stature, Hypoglycemia, Dysmetria, Intrauterine growth retardation ORPHA:48431
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Gracile Syndrome
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Intrauterine... ORPHA:53693
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly OMIM:615238
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:617950
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Gr... ORPHA:95619
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ketotic hypogly... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Ddost-Cdg
Elevated hepatic transaminase, Short stature, Nephrotic range proteinuria, Primary hypothyroidism... ORPHA:300536
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Ataxia, Hypoglycemia, Lethargy, Pancreatitis OMIM:248600
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria ORPHA:289504
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Lethargy, Hepat... OMIM:212138
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... ORPHA:79237
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia ORPHA:6
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin res... OMIM:615381
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma... ORPHA:209902
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Renal cyst, Growth delay, ... ORPHA:445038
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Hypoglycemia, Pancreatic... OMIM:232220
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Sev... ORPHA:73272
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Short stature, Hypoglycemia, Hyperhidrosis ORPHA:231137
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Lethargy OMIM:616483
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancr... ORPHA:435651
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Growth delay, Steatorrhea... ORPHA:71
Blue Diaper Syndrome
Elevated hepatic transaminase, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue urine, ... ORPHA:94086
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Ataxia, Postnatal growth retardation, Central hypothyroidism, Type I... OMIM:616113
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Decreased liver function, Dysphagia, Hepatic steatosis ORPHA:70472
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Repetitive compulsive behavior, Micro... ORPHA:66634
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Elevated circulating alanine aminotransferase concentration, Hepa... OMIM:618805
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... OMIM:614922
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-r... ORPHA:79083
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... OMIM:617093
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Renal salt wasting, Hypoglycemia, Congenital hypothyroidism OMIM:614736
Pituitary Hormone Deficiency, Combined, 2
Short stature, Reduced circulating prolactin concentration, Panhypopituitarism, Hypoglycemic seiz... OMIM:262600
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... OMIM:256810
Propionic Acidemia
Hepatomegaly, Increased level of hippuric acid in urine, Short stature, Hypoglycemia, Hyperglycin... OMIM:606054
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Ketotic hypoglycemia ORPHA:79159
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Postnatal growth retardation, Central hypothyroidism, Type II diabetes mell... ORPHA:453533
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis OMIM:615918
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Short stature, Ataxia, Pancreatic fibrosis, P... OMIM:616263
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep... ORPHA:228305
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Inability to walk,... ORPHA:26791
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Port... ORPHA:101330
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methy... OMIM:246450
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Short stature, Methylmalonic aciduria, Hypoglycemia OMIM:248360
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... OMIM:180860
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Hypertriglyceridemia, Shor... OMIM:203800
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Choreoathetosis, Dysphagia, Loss of ambulation, Abnormal concentratio... ORPHA:391428
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency, Megacystis, Abnormality of the urinary system, Hepa... ORPHA:977
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resi... ORPHA:2348
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerst... OMIM:251000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Hypoglycemia, Severe temper tantrums, Aggressive behavior, Dysmetria, Athetosis, Intraute... OMIM:617710
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Microvesicular hepat... OMIM:617156
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirr... ORPHA:528
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Donohue Syndrome
Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hy... OMIM:246200
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol, Hypoglycemia, Hepatomegaly OMIM:229700
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Nonketotic hypoglycemia, Hypoglycemia... OMIM:608836
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... OMIM:227810
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Truncal ataxia, Renal hypoplasia, Gait ataxia, Growth delay, Recurrent hypoglycemi... OMIM:616817
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hepatomegaly, Ren... ORPHA:412
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... ORPHA:79086
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Hepatic steatosis, Renal hypoplasia OMIM:615996
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Hypoglycemia, Postnatal growth retardation, Microphallus, Attention deficit hyperact... ORPHA:397590
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... ORPHA:435660
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Jaundice, Lacticaciduria, Elevat... OMIM:615751
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Hyperlipidemia, Red-brown urine, Renal ... ORPHA:228308
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Adrenocorticotr... ORPHA:199299
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal ... ORPHA:391408
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Hypoglycemia, Dysphagia, Loss of ambulation, Intrauterine growth retardation OMIM:618253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fi... ORPHA:79259
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R... ORPHA:436271
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Elevated circulating as... OMIM:614921
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Renal insufficiency, Recurr... OMIM:619487
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... OMIM:611126
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ataxia, Microno... ORPHA:98907
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... OMIM:619355
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... OMIM:619418
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, 3-Methylglutaconic aciduria, Hypoglycemia OMIM:614739
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperactivity, Hypospadias, Hyperlipidemia, Self-injurious behavior, Intrauter... ORPHA:254346
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ... OMIM:618641
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia ORPHA:2158
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hepa... ORPHA:699
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hepatocellula... OMIM:232240
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Hypoglycemia, Renal salt wasting OMIM:201910
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Growth delay, Hype... OMIM:615453
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Ataxia, Hypoglycemia, Anorexia, Agitation, Oral aversion, Hyperglycemia ORPHA:134
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... OMIM:605814
Macrocephaly-Intellectual Disability-Autism Syndrome
Attention deficit hyperactivity disorder, Hepatic steatosis, Penile freckling ORPHA:210548
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Fasting hy... ORPHA:348
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglyc... OMIM:229600
Glycerol Kinase Deficiency
Hypertriglyceridemia, Short stature, Increased urinary glycerol, Hypoglycemia, Chronic pancreatit... OMIM:307030
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepa... ORPHA:541423
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function OMIM:615160
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Recurrent myoglobinu... OMIM:620300
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia OMIM:615962
Orthostatic Hypotension 2
Hypoglycemia, Decreased glomerular filtration rate OMIM:618182
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Ataxia, Hypoglycemia, Oral-pharyngeal dysphagia, Gait a... OMIM:616878
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Recurrent urinary tract infections, Ketotic hypoglycemia, A... ORPHA:361
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia ORPHA:436174
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Hepatic steatosis, Urinary bladder sphincter dysfunction, Short stature ORPHA:52430
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Difficulty walking, Truncal ataxia, H... ORPHA:369840
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Ataxia, Growth delay, Choreoathetosis, 3-Methylglutaconic aciduria, Intrauterine grow... OMIM:616271
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short statu... ORPHA:98908
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Agitation, Ataxia, Neonatal hypoglycemia OMIM:619046
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:151660
Pituitary Apoplexy
Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... ORPHA:95613
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Elevated hepatic tr... ORPHA:20
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Wilson Disease
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Elevat... OMIM:277900
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit... ORPHA:157
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Glycosuria, Amin... OMIM:220110
Glutaric Acidemia I
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Choreoathetosis OMIM:231670
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Arima Syndrome
Hepatomegaly, Ataxia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hematu... OMIM:243910
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Fasting hypoglycemi... ORPHA:159
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Hypoglycemia, Aggressive behavior, Unst... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Short stature, Hypoglycemia, Delayed puberty, Hypothyroidism ORPHA:95496
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Hypoglyc... OMIM:276700
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, Proteinuria, Dysmetria, R... OMIM:212065
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Ataxia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosi... OMIM:124000
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Ketonuria, Ataxia, Hypoglycemia, Hypoglycemic seizures, Dysphagia,... ORPHA:480864
Leigh Syndrome
Ataxia, Hypoglycemia, Dysphagia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduri... ORPHA:506
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Insulin resistan... OMIM:613327
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:617049
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia, Gait ataxia OMIM:616355
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Hypoglycemia ORPHA:79096
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Episodic hyperhidrosis, Jaundice, Chron... ORPHA:469
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hypertri... OMIM:608594
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... ORPHA:2137
Chanarin-Dorfman Syndrome
Hepatomegaly, Ataxia, Hepatic steatosis OMIM:275630
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Renal insufficiency, Hypoglycemia, Salt craving, Anorexia, ... ORPHA:95409
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia OMIM:240200
D-Glyceric Aciduria
Hypoglycemia, Tongue thrusting, Growth delay, Aminoaciduria, Micropenis OMIM:220120
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol... OMIM:207800
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Diffuse hepatic steatosis, Cholestasis, Tip-toe gait, Lethargy, Chronic hepat... ORPHA:746
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Hypoglycemia OMIM:614702
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho... OMIM:609015
Cog8-Cdg
Elevated hepatic transaminase, Ataxia, Hypoglycemia ORPHA:95428
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Urin... ORPHA:2126
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Proximal tubulopathy, Intrauterine growth ... ORPHA:2609
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hepatosplenomegaly, Hepatic fibrosis, Hepati... ORPHA:79322
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria, Lethargy OMIM:210210
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Bile duct proliferation... OMIM:618329
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... ORPHA:556037
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Short stature, Hypospa... ORPHA:2959
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemia, Hepat... OMIM:269700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Short stature, Ataxia, Inability to w... OMIM:615356
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Short stature, Hypoglycemia, Elevated circulating aspartate ami... OMIM:608779
Pyruvate Carboxylase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Lacticaciduria, Growth delay, Tip-toe gait, Compuls... ORPHA:3008
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Anorexia, R... ORPHA:85138
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, I... OMIM:131100
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Rabson-Mendenhall Syndrome
Short stature, Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsulinem... ORPHA:769
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Methioninuria, Homocystinuria, Pancreatitis OMIM:236200
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Renal salt w... ORPHA:275761
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatic steatosis, Broad-based gait, Hepatomegaly, Ataxia, Dysmetr... ORPHA:14
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased circulating free fatty acid level, Jaundic... ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Aminoaciduria, Neonatal death, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:619055
Insulin-Resistance Syndrome Type B
Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, H... ORPHA:2298
Mirage Syndrome
Recurrent urinary tract infections, Short stature, Hypospadias, Hypoglycemia, Adrenal insufficien... OMIM:617053
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation test OMIM:615577
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis, Dysphagia ORPHA:298
Bachmann-Bupp Syndrome
Hypoglycemia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619075
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Hypoglycemia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repe... ORPHA:457279
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Postnatal growth retardation,... ORPHA:96182
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced ... ORPHA:226307
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia OMIM:608688
Silver-Russell Syndrome
Short stature, Hypospadias, Postnatal growth retardation, Insulin resistance, Hyperhidrosis, Recu... ORPHA:813
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatic ... ORPHA:280365
Aromatase Deficiency
Hyperlipidemia, Insulin resistance, Growth delay, Type II diabetes mellitus, Hepatic steatosis ORPHA:91
Leprechaunism
Hepatomegaly, Postnatal growth retardation, Insulin resistance, Long penis, Hyperinsulinemia, Hyp... ORPHA:508
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Hypospadias, Hypoglycemia, Lethargy, Micropenis OMIM:607143
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Nephrocalcinosis, Intrauterine growth retardation, Hypothyroidism OMIM:618005
Tenorio Syndrome
Enuresis, Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Aggressive behavior, Dysmetria, Athetosis, Difficulty walking, Dysphagia, Intrauterine gr... ORPHA:572798
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypertriglyceridemia, Ke... ORPHA:247598
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Neonatal hypoglycemia, Gait disturbance, Hypospadias ORPHA:457485
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... OMIM:614300
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Inability to walk, Splenomegaly, Nephrotic syndrome, Focal segmental g... OMIM:617303
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... ORPHA:168558
Shashi-Pena Syndrome
Intrauterine growth retardation, Hypoglycemia, Unilateral renal agenesis OMIM:617190
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Adr... ORPHA:90791
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Ataxia, Hypospadias, Hypoglycemia, Splenomegaly, La... OMIM:252010
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Hypoglycemia, Hemolytic-uremic syndrome, ... ORPHA:79282
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia OMIM:616638
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... ORPHA:289548
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Glutaric aciduria, Chronic kidney disease, Athetosis, Fasting hypoglycemia, Dysphagia ORPHA:25
Monosomy 13Q34
Growth delay, Fetal pyelectasis, Insulin resistance, Hepatic steatosis ORPHA:96168
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, 3-Methylglutaconic aciduria, Gait disturbance, T... OMIM:619259
Pituitary Hormone Deficiency, Combined, 6
Short stature, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Shigellosis
Hypoglycemia, Anorexia, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Cholestasis, Hepatic ... ORPHA:810
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Deeah Syndrome
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Hypohidrosis,... OMIM:619004
Cholera
Abnormality of renal excretion, Hypoglycemia, Lethargy, Acute kidney injury, Decreased urine output ORPHA:173
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Porta... OMIM:619377
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Intrauterine growth retardation, Tip-toe gait, Neonatal hypoglycemia ORPHA:565624
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hypoglycemia, Jaundice ORPHA:90790
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoglycemia OMIM:620275
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Nocturia ORPHA:230
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia, Inability to walk by childhood/adolescence, Choreoathetosis, Athetosis, Micropenis OMIM:620224
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Hypoglycemia, Growth delay,... OMIM:616007
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Short stature, Hypoglycemia OMIM:233600
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Dysphagia, Neonat... OMIM:617248
Orthostatic Hypotension 1
Neonatal hypoglycemia, Nocturia, Reduced circulating prolactin concentration OMIM:223360
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Hepatic steatosis, Restri... OMIM:619475
Sotos Syndrome
Abnormality of the kidney, Aggressive behavior, Glucose intolerance, Attention deficit hyperactiv... OMIM:117550
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Aciduria, Microvesicu... OMIM:203700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Short stature, Hypoglycemia, P... OMIM:613658
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Hydronephrosis, Neonatal hypoglycemia ORPHA:35173
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Decreased circulating ald... ORPHA:786
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Hypogly... ORPHA:90695
Acute Liver Failure
Elevated hepatic transaminase, Ataxia, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepat... ORPHA:90062
Cimdag Syndrome
Microvesicular hepatic steatosis, Ataxia, Cholelithiasis, Hepatomegaly OMIM:619273
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati... OMIM:609069
Bloom Syndrome
Postnatal growth retardation, Growth delay, Type II diabetes mellitus, Intrauterine growth retard... OMIM:210900
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99413
Turner Syndrome
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:881
Mosaic Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99228
Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99226
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Unilateral renal agenesis, Postn... OMIM:620305
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Smith-Lemli-Opitz Syndrome
Renal cyst, Hypocholesterolemia, Micropenis, Hepatic steatosis, Self-mutilation, Penoscrotal hypo... OMIM:270400
Kabuki Syndrome 2
Short stature, Postnatal growth retardation, Horseshoe kidney, Intrauterine growth retardation, N... OMIM:300867
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Proteinuria, Po... OMIM:619127
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Hepatosplenomegaly, Cholecystitis, Cholelithiasi... OMIM:301066
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H... OMIM:619991
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Inability... ORPHA:404454
1P36 Deletion Syndrome
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Short stature, Abnormality of the kidney, Ab... ORPHA:1606
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Ataxia, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesic... OMIM:220111
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Abnormality of the spleen, Abn... ORPHA:2162
Oculodentodigital Dysplasia
Neurogenic bladder, Ataxia, Gait disturbance, Hypoglycemia ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence, Attention deficit hyper... OMIM:619934
Alg12-Cdg
Elevated hepatic transaminase, Hypospadias, Recurrent hypoglycemia, Hypocholesterolemia, Intraute... ORPHA:79324
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Nephroblastomatosis, Pancreatic islet-cell hyper... OMIM:267000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Thyr... ORPHA:293978
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Short stature, Diabetes mellitus, Insulin-resistant diabete... ORPHA:79474
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Hypoglycemia, Hepatoblastoma, Neonatal hypoglycemia, Splenome... ORPHA:116
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Neonatal hypoglycemia ORPHA:447788
Aicardi-Goutieres Syndrome 7
Hepatic steatosis, Hepatomegaly, Splenomegaly, Hepatitis, Nephrotic syndrome, Intrauterine growth... OMIM:615846
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Hashimoto thyroiditis, Hypoglycemia ORPHA:109
Histiocytoid Cardiomyopathy
Lethargy, Hypoglycemia, Renal cyst, Hepatomegaly ORPHA:137675
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Hypoglycemia, Anorexia, Aggressive behavior, ... ORPHA:99826
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Short stature, Decreased response to gr... ORPHA:3455
Ogden Syndrome
Global glomerulosclerosis, Short stature, Maternal diabetes, Postnatal growth retardation, Microv... OMIM:300855
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Menkes Disease
Intrauterine growth retardation, Bladder diverticulum, Hypoglycemia, Prolonged neonatal jaundice ORPHA:565
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Short stature, Neonatal hypoglycemia, Renal salt wasting, L... ORPHA:90794
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitar... ORPHA:95494
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Decreased response to growth hormone stimulation test, Unilateral renal agenesi... OMIM:619503
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Microvesicular hepatic s... OMIM:300868
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Neonatal hypoglycemia, Pancreatic hyperplasia, Nephrolithiasis, Ren... OMIM:130650
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Renal hypoplasia, Intrauterine growth retardation, Micropenis, Hepatic steatosis OMIM:619321
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Digeorge Syndrome
Renal dysplasia, Hepatic steatosis, Renal insufficiency, Short stature, Unilateral renal agenesis... OMIM:188400
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Renal agenesis ORPHA:1848
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Neonatal hypoglycemia, Difficulty walking, Gait ataxia ORPHA:457359
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Hypospadias, Hypoglycemia, Vesicovaginal fistula, Horseshoe... OMIM:201750
Costello Syndrome
Renal insufficiency, Short stature, Hypoglycemia OMIM:218040
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney OMIM:261740
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Renal artery stenosis, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Holoprosencephaly 1
Micropenis, Short stature, Hypoglycemia OMIM:236100
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821

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 Gk

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 Gk.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
De novo expression of gastrokines in pancreatic precursor lesions impede the development of pancreatic cancer. Oncogene (January 2022) Gkn1tm1(KOMP)Vlcg Gkn2tm1(KOMP)Vlcg PMC8897191
Gastrokine-1, an anti-amyloidogenic protein secreted by the stomach, regulates diet-induced obesity. Scientific reports (May 2021) Gkn1tm1(KOMP)Vlcg PMC8096951
Loss of H3K27me3 imprinting in the Sfmbt2 miRNA cluster causes enlargement of cloned mouse placentas. Nature communications (May 2020) Gkn2tm1(KOMP)Vlcg PMC7195362
Loss of gastrokine-2 drives premalignant gastric inflammation and tumor progression. The Journal of clinical investigation (March 2016) Gkn2tm1(KOMP)Vlcg Gkn2tm1.1(KOMP)Vlcg PMC4811116
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Gkn2tm1(KOMP)Vlcg PMC4739719

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MGI Allele Allele Type Produced
Gktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gktm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gktm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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