Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
acyl-Coenzyme A dehydrogenase, long-chain
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Acadl 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Infertility, Azoospermia, Insulin resistance, Oligospermia, Hepatic steatos... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Elevated hepatic transa... ORPHA:369
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy, Hypoglycemia OMIM:609016
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:615395
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine... OMIM:619386
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hepatic steatosis, Oligomenorrhea OMIM:613877
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Ketotic hypoglycemia, Hepatic steatosis, Elevate... ORPHA:26792
Glycogen Storage Disease Iii
Ventricular hypertrophy, Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomeg... OMIM:232400
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Renal t... OMIM:255120
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Ventricular septal hypertrophy, Elevated circulating creatine kinase concen... ORPHA:370
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Primary amenorrhea, He... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hepatic fibrosis, Hypertriglyce... ORPHA:280356
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Decreased plasma total carnitine, Elevated hepatic transaminase, Red-bro... ORPHA:228305
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hypoglycemia, Hepatomegaly, Organic aciduria, Hyperammonemi... ORPHA:35
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Hepatic steatosis, End... OMIM:212140
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:615238
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Abnormal localization of kidney, Prol... ORPHA:446
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Dicar... OMIM:231530
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Elevated hepatic tra... ORPHA:26793
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Hypercalciuria, Hepatic failure, Elevated circulating aspartate amino... ORPHA:2088
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Renal tubular acidosis, Hepatic failur... ORPHA:156
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hyperuricemia,... OMIM:604367
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Elevated circulating creatine kinase concentration, Renal insuffic... ORPHA:228308
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hyper... OMIM:614300
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic failure, Hypogonadism OMIM:617872
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatoc... OMIM:231100
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Elevated hepatic transaminase, He... OMIM:201450
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decreased liver f... OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Keto... ORPHA:2089
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia OMIM:615026
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular h... OMIM:600649
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, R... OMIM:278000
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepat... ORPHA:79085
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Hypoplasia of ... ORPHA:181393
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branched chain amino a... ORPHA:2394
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Decreased liver function, Hypertrophic... OMIM:246900
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired glucone... OMIM:261680
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, ... OMIM:201475
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Atrial septal defect, Elevated hepatic transaminase, Elevated circulating sebacic... OMIM:615160
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Hypoglycemia ORPHA:67048
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Oligomenorrhea, Hepatic steatosis, Hyperuricemi... ORPHA:79083
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circula... OMIM:615980
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia OMIM:617950
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hyperbilirubinemia, Acute hepati... OMIM:613070
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Amenorrhea, Hepatic steato... ORPHA:528
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Ketotic hypoglycemia, Pulmonic stenosis, Dica... ORPHA:79159
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Hypoglycemia, Methylmalonic aciduria, Methy... ORPHA:289504
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Generalized aminoaciduria, Elevated circulating glutaric acid concentration... OMIM:231680
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis,... OMIM:212138
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatic steato... ORPHA:99901
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Elevated hepatic trans... OMIM:619355
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones... ORPHA:209902
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Insulin-resistan... ORPHA:2457
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Second... ORPHA:2348
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Hypoketotic hypoglycem... ORPHA:157
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure, D... OMIM:611126
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy OMIM:618234
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertrigly... ORPHA:435651
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia OMIM:606528
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepat... ORPHA:435660
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Menometrorrhagia, Splenomegaly, Pancreatitis, T... ORPHA:90970
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp... OMIM:619013
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Mpi-Cdg
Hepatic failure, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hyp... OMIM:618805
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Abnormal circulating lipid co... ORPHA:79086
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Hypoplasia of penis ORPHA:2022
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lacticaciduria, Elevated hepatic transaminase, Abnormal heart morphol... ORPHA:26791
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Alstrom Syndrome
Hyperinsulinemia, Elevated hepatic transaminase, Chronic active hepatitis, Hypergonadotropic hypo... OMIM:203800
Seckel Syndrome 10
Ventricular hypertrophy, Glucose intolerance, Insulin resistance, Elevated hemoglobin A1c, Impair... OMIM:617253
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Hepatic steatosis, Elevated hepatic transamin... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Decreased liver function, Ele... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Decreased liver function, Ele... OMIM:618835
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hyperalaninemia, Decreased liver function, Nephrolit... OMIM:618329
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Hyperglycinemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:245400
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Jaundice, Cholestasis OMIM:201400
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Hypoglycemia OMIM:616113
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasi... OMIM:614921
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Nephrocalcinosis, Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoglycemia, Glycosuria, Hepat... OMIM:616026
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatic failure, Hyperammonemia OMIM:617049
Classic Galactosemia
Decreased fertility in females, Elevated hepatic transaminase, Oligomenorrhea, Hypoglycemia, Prim... ORPHA:79239
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly, Hyperalaninemia, Proximal renal tubular aci... OMIM:266150
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated hepatic transaminase, Elevated urine glycola... ORPHA:416
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hy... ORPHA:348
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Enlarged kidney, Renal Fanconi syndro... OMIM:276700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Elevated hepatic transaminase, Long-... OMIM:608836
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, ... OMIM:232200
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Hypogonadism, Nephrolithiasis ORPHA:163693
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Pericardial eff... OMIM:212065
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car... OMIM:616483
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Glutaric aciduria, 3-Methylglutar... OMIM:610198
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Elevated hepatic transaminase, Hypoketotic hypo... ORPHA:159
Glycerol Kinase Deficiency
Hypertriglyceridemia, Increased urinary glycerol, Hypoglycemia OMIM:307030
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Aminoaciduria, Hypoglycemia, Cho... OMIM:124000
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Hyponatremia,... ORPHA:199296
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 ... OMIM:617575
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Hypoglycemia, Hyperglycinuria, Hepatomegal... OMIM:606054
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, ... OMIM:232220
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Decre... OMIM:614922
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia OMIM:618958
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hyperoxaluria, Hepatic fibrosis, Hepatomegaly, Renal cyst OMIM:601539
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Albuminuria, Hypergonadotropic hypog... OMIM:230400
Shashi-Pena Syndrome
Atrial septal defect, Hypoglycemia OMIM:617190
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Elevated hepatic transaminase, He... ORPHA:905
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase OMIM:615438
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Organic aciduria, Cardiomyopathy OMIM:255100
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating alkaline phosphata... ORPHA:52430
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Aminoaciduria, Glycosuria, Hepatomegaly, Decreased liver function... ORPHA:436271
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Increased circulating chylomicron concentration, Hypertrig... ORPHA:444490
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased fertility in females, Hyperinsulinemia, Elevated hepatic transaminase, Hepat... OMIM:269700
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Hyperphosphaturia, Transient aminoaci... OMIM:229600
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Renal steatosis, Acute pancreatitis, Hepato... ORPHA:412
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al... OMIM:300555
Somatostatinoma
Increased circulating cortisol level, Extrahepatic cholestasis, Intrahepatic cholestasis, Steator... ORPHA:97283
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperam... OMIM:618120
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Myoglobinuria, C... OMIM:609015
Ddost-Cdg
Hepatic steatosis, Nephrotic range proteinuria, Elevated hepatic transaminase ORPHA:300536
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Aminoaciduria, Hyperoxaluria, Renal insufficiency, Ne... OMIM:260000
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, 3-Methylglutaconic acidu... ORPHA:445038
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Abnormal heart morphology ORPHA:231147
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:614702
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased fertility in females, Hyperinsulinemia, Elevated hepatic transaminase, Hepat... OMIM:608594
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hyperlipidemia, Enlarged kidney, Nephrolithiasi... ORPHA:79259
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Cholestasis, Hepa... ORPHA:541423
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Aminoaciduria, Hepatomegaly, Decreas... OMIM:615486
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease, Hypertrophic car... ORPHA:5
Mehmo Syndrome
Male hypogonadism, Micropenis, Hypoglycemia OMIM:300148
Visceral Steatosis, Congenital
Hypocalcemia, Myocardial steatosis, Hepatic steatosis, Renal steatosis, Hypoglycemia, Jaundice, N... OMIM:228100
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Pancreatitis, Mitral valve prolapse, Homocystinuria, Hyper... OMIM:236200
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Hyperoxaluria, Enuresis, Decreased glomer... ORPHA:93598
Glycogen Storage Disease Ic
Xanthelasma, Hematuria, Chronic pancreatitis, Focal segmental glomerulosclerosis, Hepatocellular ... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Cardiom... OMIM:618838
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomeg... OMIM:613327
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Primary amenorrhea, Female... ORPHA:91
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Aminoaciduria, Glycosuri... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Secondar... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypoketotic hypoglycemia OMIM:610768
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Hypoplasia of penis ORPHA:633
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... OMIM:151660
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated ... ORPHA:66634
Hsd10 Disease, Infantile Type
Abnormal enzyme/coenzyme activity, Hypoglycemia, Abnormal concentration of acylcarnitine in the u... ORPHA:391428
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Hepatic steatosis, Hypospadias, Hyperlipidemia ORPHA:254346
Pearson Syndrome
Hypocalcemia, Pancreatic fibrosis, Hypomagnesemia, Renal insufficiency, Cardiomyopathy, Renal cys... ORPHA:699
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Glutaric Acidemia I
Glutaric aciduria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hepatomegaly, ... OMIM:231670
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria, Left ventricular noncomp... OMIM:248360
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Elevated hepatic transaminase, Abnormal heart morphology, Hypoglycemia, Hepat... OMIM:608779
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Hyperalaninemia, Hyperpro... OMIM:619003
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Elevated hepatic transaminase, Acute kidney injury, Horseshoe kidney, Hepatic ste... ORPHA:93111
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Pulmonic stenosis, Fetal pyelectasis, Metrorrhagia, Infant... ORPHA:96168
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen ovale, Tetral... OMIM:601005
Autoimmune Hepatitis
Increased total bilirubin, Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepat... ORPHA:2137
Metachromatic Leukodystrophy
Urinary incontinence, Gallbladder dysfunction, Cholecystitis OMIM:250100
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Leigh Syndrome
Lacticaciduria, Abnormal enzyme/coenzyme activity, Complex organic aciduria, Ventricular septal d... ORPHA:506
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Fatal liver failure in infancy, Microvesicular hepatic steatos... ORPHA:275761
Crimean-Congo Hemorrhagic Fever
Jaundice, Elevated hepatic transaminase, Hepatic steatosis ORPHA:99827
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoketotic hypoglycemia, Chronic hepatic failure, Cholestasis, Left ventricular hy... ORPHA:746
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Macrovesicular hepatic ... ORPHA:298
Hsd10 Mitochondrial Disease
Hypoglycemia, Hypertrophic cardiomyopathy OMIM:300438
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Reduced C-peptide level, Hypoglycemia, H... ORPHA:2126
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Hypertrophic cardiomyopathy OMIM:617184
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Elevated hepatic transaminase, Nonketotic hypoglycemia, 3-Methylglutaric aciduria... ORPHA:20
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypoglycemia OMIM:615962
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating acylcarnitine concen... OMIM:616878
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatome... OMIM:203700
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Cardiomyopathy, H... OMIM:619046
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Hepatic steatosis, Hyperbilirubine... ORPHA:14
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Cholestasis, Hepa... OMIM:246200
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Hyposthenuria, Low-molecular-weight proteinuria, Focal segmen... OMIM:308990
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Propionyl-CoA carboxylase deficiency, Hypoglycemia, Hyperglycinuria, Acute hyperammonemia, Organi... OMIM:210210
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Adrenomyodystrophy
Hepatic steatosis, Megacystis, Abnormality of the urinary system ORPHA:977
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Maple Syrup Urine Disease
Elevated plasma branched chain amino acids, Hypoglycemia, Pancreatitis, Elevated circulating L-al... OMIM:248600
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Abnormal renal collecting system morphology, Hepatic steatosis, Hy... ORPHA:17
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperox... OMIM:167030
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Prima... OMIM:600955
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Cystinuria, Nephrolithiasis OMIM:606407
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Insulin-resista... ORPHA:2959
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Diabetes mel... OMIM:616263
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Azoospermia, Hypernatriuria, Ketotic hypoglycemia, Decreased circulating c... ORPHA:361
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Jaundice, Pigment gallstones, Splenomegaly, Cholecystitis, Decreased glucosephosp... OMIM:613470
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Nonketotic hypoglycemi... ORPHA:97279
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Elevated hepatic transaminase, Elevated circulating creatine kinase concen... ORPHA:480864
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Chronic hepatic failure, Hyperuricemia, Hepatomegaly, Jaundice... ORPHA:469
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
3-Methylglutaconic aciduria, Hyperammonemia, Hypoglycemia OMIM:614739
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Abnormal heart morphology, Ketonuria, Hypoglycemia, Glomerulopathy, Jaund... ORPHA:79282
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Hypoglycemia OMIM:614736
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Proteinuria, Macrovesi... OMIM:617303
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Hyperalaninemia, Hyperprolinemia ORPHA:79246
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy, Organic aciduria, 3-Methylglutaconic aciduria... OMIM:302060
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Hypoglycemia, Hepatitis, Hyper... ORPHA:199299
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Shigellosis
Peritonitis, Acute kidney injury, Splenic abscess, Hyponatremia, Hypoglycemia, Abnormal blood ion... ORPHA:810
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Urinary bladde... ORPHA:449395
Beta-Ketothiolase Deficiency
Hyperammonemia, Hyperuricemia, Hypoglycemia, Ketonuria, Hepatomegaly, Hyperglycemia ORPHA:134
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Hypoglycemia OMIM:229700
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lacticaciduria, Patent foramen ovale, Hepatomegaly, Neonatal death, Left ventricular hypertrophy,... OMIM:619167
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased plasma carnitine, Abnormal circulating carnitine concentration, Decreased activity of N... ORPHA:431361
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, N... ORPHA:230
Pyruvate Carboxylase Deficiency
Hyperammonemia, Lacticaciduria, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increa... ORPHA:3008
Silver-Russell Syndrome 1
Fasting hypoglycemia, Urethral valve, Hepatocellular carcinoma, Abnormality of the ureter, Nephro... OMIM:180860
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Hypoglycemia OMIM:618253
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting, Hypoglycemia OMIM:201910
Triploidy
Hepatomegaly, Abnormality of the pancreas, Abnormality of the gallbladder, Hypoplasia of penis, H... ORPHA:3376
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Renal insufficiency, Nephrocalcinosis OMIM:259900
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Methylmaloni... OMIM:251000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyponatremia, Hypoglycemia, Jaundice, Hyperkalemia ORPHA:90790
Genitopalatocardiac Syndrome
Abnormality of mesentery morphology, Multicystic kidney dysplasia, Abnormality of the gallbladder... ORPHA:2075
Wilson Disease
Cirrhosis, Hyperphosphaturia, Proteinuria, Hepatocellular carcinoma, Aminoaciduria, Glycosuria, H... OMIM:277900
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Ketonuria, Hypoglycemia OMIM:615751
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Biliary tract obstruction, Elevated alkaline ph... ORPHA:100086
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Diabetes mellitus OMIM:609069
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Jaundice, Splenomegaly, Cholecystitis, Unconjugated hyperbilirubinemia OMIM:266200
Isolated Complex I Deficiency
Increased serum pyruvate, Proximal tubulopathy, Hypoglycemia, Hepatomegaly, Diabetes mellitus, Hy... ORPHA:2609
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance ORPHA:73272
Q Fever
Endocarditis, Elevated hepatic transaminase, Pericarditis, Hematuria, Abnormal heart valve morpho... ORPHA:781
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Infertility, Hypoglycemia, Amenorrhea ORPHA:95619
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Cholecystitis OMIM:235700
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Hyperbilirubinemia, Jaundice, Abnormality of the pancreas, Elevate... ORPHA:69665
Cog8-Cdg
Elevated hepatic transaminase, Hypoglycemia ORPHA:95428
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Hypogonadism, Neonatal hypoglycemia OMIM:262600
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Focal segmental glomerulosclerosis, Mitral va... OMIM:619127
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Recurrent infantile hypoglycemia, Insulin res... ORPHA:508
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Hypoglycemia, Increased circul... ORPHA:95409
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Sheehan Syndrome
Hyposthenuria, Amenorrhea, Oligomenorrhea, Decreased circulating cortisol level, Hyponatremia, Im... ORPHA:91355
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Hemobilia, Hyperbilirubine... ORPHA:88673
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Aminoaciduria, Hypoglycemia, Neonatal death, Hypoalbuminemia, Elevated cir... OMIM:619055
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He... OMIM:261515
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Female infertility, Secondary amenorrhea, Type II diabetes melli... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Female infertility, Secondary amenorrhea, Type II diabetes melli... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Female infertility, Secondary amenorrhea, Type II diabetes melli... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Female infertility, Secondary amenorrhea, Type II diabetes melli... ORPHA:99226
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased... OMIM:613658
Vacterl/Vater Association
Renal agenesis, Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormality of the ure... ORPHA:887
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Hyperglycinemia OMIM:619063
Multiple Carboxylase Deficiency
Organic aciduria, Hyperammonemia, Decreased biotinidase level, Abnormal enzyme/coenzyme activity ORPHA:148
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Azoospermia, Neonatal hypoglycemia, Decreased circulating cortisol level, Hyponatremia, Decreased... ORPHA:90791
Generalized Glucocorticoid Resistance Syndrome
Infertility, Increased urinary cortisol level, Increased circulating cortisol level, Oligospermia... ORPHA:786
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Mirage Syndrome
Microphallus, Hypergonadotropic hypogonadism, Recurrent urinary tract infections, Hyponatremia, H... OMIM:617053
Cimdag Syndrome
Hepatomegaly, Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Hypertrophic cardiomyopathy OMIM:618241
Pituitary Apoplexy
Increased circulating cortisol level, Oligomenorrhea, Hypergonadotropic hypogonadism, Hyponatremi... ORPHA:95613
Erythrocytosis, Familial, 8
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:222800
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Microphallus, Hypoglycemia, Dysmenorrhea ORPHA:397590
Addison Disease
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Hypoglycemia, Increased circul... ORPHA:85138
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Hepatic steatosis, Hepatic fibrosis, Renal tubular... OMIM:243910
Atypical Werner Syndrome
Renal neoplasm, Hyperinsulinemia, Fasting hyperinsulinemia, Hepatic steatosis, Insulin-resistant ... ORPHA:79474
Argininemia
Micronodular cirrhosis, Cholestasis, Hepatomegaly, Hyperargininemia, Oroticaciduria, Diaminoacidu... OMIM:207800
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Abnormality of the ureter, Renal cell carcinoma, Ab... ORPHA:2869
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Hypoglycemia, Bicuspi... ORPHA:457279
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, Hypertrophic cardiomyopathy OMIM:619053
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Glycogen Storage Disease Xii
Jaundice, Splenomegaly, Cholelithiasis, Cholecystitis OMIM:611881
Methylmalonic Aciduria, Cblb Type
Hyperglycinemia, Ketonuria, Hepatomegaly, Methylmalonic aciduria, Methylmalonic acidemia, Decreas... OMIM:251110
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Atrial septal defect, Long penis, Insulin resistance, Ventricular septal de... ORPHA:769
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated hepatic transamin... OMIM:615356
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hyponatremia, Hypoglycemia, Ab... ORPHA:173
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus ORPHA:254516
Methylmalonic Aciduria, Cbla Type
Hyperglycinemia, Ketonuria, Hepatomegaly, Methylmalonic aciduria, Methylmalonic acidemia, Decreas... OMIM:251100
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Insulinoma, Hypoglycemia, Hypercalcemia, Pancreatic islet c... OMIM:131100
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria ORPHA:99742
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Hypertrophic cardiomyopathy, Hypoglycemia, Hepatomegaly OMIM:252010
Mental Retardation, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Recurrent hypoglycemia OMIM:616817
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Hypoglycemia OMIM:617710
Methylmalonic Acidemia With Homocystinuria Type Cblf
Reduced number of intrahepatic bile ducts, Abnormal heart morphology, Unilateral renal agenesis, ... ORPHA:79284
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Myocardial steatosis, Renal artery stenosis, Hepatic steatosis, Renal steat... ORPHA:391665
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Neonatal hypoglycemia, Hypernatriuria, Decreased ... ORPHA:168558
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hepatic fibrosis, Hepatomegaly, Elevated circu... OMIM:207900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Urogenital sinus anomaly, Neonatal hypoglycemia, Hypernatriuria, Decreased ... ORPHA:289548
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Enlarged kidney, ... ORPHA:116
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Pearson Marrow-Pancreas Syndrome
Complex organic aciduria, 3-Methylglutaric aciduria, Pancreatic fibrosis, Type I diabetes mellitu... OMIM:557000
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Hypoglycemia OMIM:619075
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria OMIM:614707
Holoprosencephaly
Ventricular septal defect, Abnormality of the urinary system, Hyponatremia, Hypoglycemia, Abnorma... ORPHA:2162
Orthostatic Hypotension 1
Retrograde ejaculation, Nocturia, Neonatal hypoglycemia OMIM:223360
Alström Syndrome
Recurrent urinary tract infections, Abnormal liver physiology, Chronic kidney disease, Type II di... ORPHA:64
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hematuria, Cholelithiasis, Hepatic failure, Cholecystitis, Portal hypertension, Nephro... ORPHA:774
Simpson-Golabi-Behmel Syndrome
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Hydroureter, Polysplenia, C... ORPHA:373
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypotrig... ORPHA:404454
Biotinidase Deficiency
Hepatomegaly, Decreased biotinidase level, Splenomegaly, Organic aciduria, Hyperammonemia OMIM:253260
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism ORPHA:453533
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Abnormal heart morphology, Moderate albuminuria, Ketonuria, Glycosuria... ORPHA:99885
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Renal cortical cysts, Enlarged kidney, Cardiomyopathy, Hepatomegaly, Pancr... OMIM:130650
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Abnormal cardiac septum morphology, Nephrocalcinosis, Hypoglycemia OMIM:618005
Listeriosis
Peritonitis, Endocarditis, Pericarditis, Acute kidney injury, Pyelonephritis, Splenic abscess, My... ORPHA:533
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Abnormal renal tubule morphology, Lacticaciduria, Multiple glomerular cyst... ORPHA:255210
Triosephosphate Isomerase Deficiency
Jaundice, Splenomegaly, Cholelithiasis, Cholecystitis OMIM:615512
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Fasting hypoglycemia, Abnormal enzyme/coenzyme activity, Chronic kidney disease ORPHA:25
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hypoglycemia, Hepatomegaly, Renal cyst, Cardiomegaly ORPHA:137675
1P36 Deletion Syndrome
Abnormality of the kidney, Abnormal heart valve morphology, Hepatic steatosis, Abnormal cardiac s... ORPHA:1606
Acute Liver Failure
Hepatocellular necrosis, Elevated hepatic transaminase, Acute kidney injury, Hypoglycemia, Jaundi... ORPHA:90062
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal enzyme/coenzyme activity, Neonatal hypoglycemia, Cardiomyopathy ORPHA:572798
Kawasaki Disease
Pericarditis, Proteinuria, Abnormal heart valve morphology, Cholecystitis, Jaundice, Hepatitis, D... ORPHA:2331
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Combined Oxidative Phosphorylation Defect Type 39
Abnormal enzyme/coenzyme activity, Neonatal hypoglycemia ORPHA:565624
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormality of the menstrual cycle, Urogenital sinus anomaly, Neonatal hypoglycemia, Long penis, ... ORPHA:90794
Pituitary Stalk Interruption Syndrome
Primary amenorrhea, Hypoglycemia, Hypoplasia of penis ORPHA:95496
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Neonatal hypoglycemia ORPHA:457485
Kabuki Syndrome 2
Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, Neonatal hypoglycemia OMIM:300867
Citrullinemia, Classic
Cirrhosis, Hypoargininemia, Hyperglutaminemia, Hepatomegaly, Oroticaciduria, Hyperammonemia, Epis... OMIM:215700
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Recurrent hypoglycemia, Hyponatremia ORPHA:293978
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Neonatal hypoglycemia, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Oculodentodigital Dysplasia
Neurogenic bladder, Hypoglycemia, Ventricular septal defect ORPHA:2710
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Cholecystitis ORPHA:778
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia OMIM:608624
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria OMIM:618811
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Orotic Aciduria
Atrial septal defect, Hematuria, Ventricular septal defect, Reduced orotidine 5-prime phosphate d... OMIM:258900
Silver-Russell Syndrome
Hypospadias, Recurrent hypoglycemia, Abnormality of the urinary system, Insulin resistance ORPHA:813
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Acute kidney injury, Increased circulating lact... ORPHA:466677
Menkes Disease
Prolonged neonatal jaundice, Hypoglycemia, Bladder diverticulum ORPHA:565
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Methylmalonic acidemia OMIM:251120
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Horseshoe kidney, Abnormal heart morphology, Insulin resistance, Renal dysp... ORPHA:96182
Wiedemann-Rautenstrauch Syndrome
Dilatation of renal calices, Hepatic steatosis, Recurrent urinary tract infections, Congenital ma... ORPHA:3455
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Cholecystitis ORPHA:309263
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Renal hypoplasia, Hepatic steatosis, Micropenis, Hypoplasia of the ovary OMIM:619321
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Wolf-Hirschhorn Syndrome
Atrial septal defect, Abnormal heart valve morphology, Abdominal situs inversus, Abnormality of t... ORPHA:280
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Elevated 7-dehydrocholesterol, Multicystic kidne... ORPHA:818
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia ORPHA:79242
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Hypoglycemia, Hypogonadotropic hypogonadism ORPHA:226307
Deeah Syndrome
Hepatomegaly, Exocrine pancreatic insufficiency, Micropenis, Neonatal hypoglycemia OMIM:619004
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Ketonuria ORPHA:1399
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Costello Syndrome
Renal insufficiency, Atrial septal defect, Ventricular septal defect, Hypoglycemia, Pulmonic sten... OMIM:218040
Richards-Rundle Syndrome
Hypogonadism, Ketonuria, Primary amenorrhea OMIM:245100
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Aminoaciduria OMIM:614520
Sotos Syndrome
Atrial septal defect, Renal agenesis, Neonatal hypoglycemia, Abnormal heart morphology, Ventricul... ORPHA:821
Biotinidase Deficiency
Organic aciduria, Hyperammonemia, Decreased biotinidase level ORPHA:79241
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia OMIM:253270
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Bannayan-Riley-Ruvalcaba syndrome
Long penis, Hypoglycemia OMIM:153480
Renal Agenesis, Bilateral
Renal agenesis, Nonketotic hypoglycemia ORPHA:1848
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Infertility, Hypoglycemia, Amenorrhea ORPHA:90695
X-Linked Intellectual Disability, Armfield Type
Organic aciduria, Abnormal cardiac septum morphology, Aminoaciduria, Galactosuria ORPHA:85276
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Infertility, Hypoglycemia, Amenorrhea ORPHA:95494
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Neonatal hypoglycemia ORPHA:457359
Holoprosencephaly 1
Micropenis, Single ventricle, Hypoglycemia OMIM:236100

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 Acadl

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 Acadl.

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

Order Mouse and ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter