banner
Genes Phenotypes Help, News, Blog

Gene: Mgat4a MGI:2662992

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mannoside acetylglucosaminyltransferase 4, isoenzyme A
Synonyms:
9530018I07Rik,  GnT-IVa

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 Mgat4a 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 Mgat4a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy... OMIM:232700
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... OMIM:615703
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity ORPHA:329249
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive OMIM:601410
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin... OMIM:604367
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Essential Fructosuria
Hyperglycemia, Abnormality of glycolipid metabolism ORPHA:2056
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Elevated hemoglobin A... OMIM:618858
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Type II diabetes mellitus, Obesity, Hypertrigl... ORPHA:71529
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... OMIM:610717
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... ORPHA:181393
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:144600
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... OMIM:612526
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:606176
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... ORPHA:79084
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Decreased adiponectin level, Insul... ORPHA:79085
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance, Premature pubarche OMIM:614662
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly... OMIM:608600
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... ORPHA:71212
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... OMIM:615980
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Glycogen Storage Disease Ixa1
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... OMIM:306000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Postprandial ... ORPHA:2089
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... OMIM:262190
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Decr... OMIM:615238
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... OMIM:606762
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... ORPHA:324575
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... OMIM:613027
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... OMIM:614480
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... OMIM:617872
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Maturity-onset diabete... OMIM:609812
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... OMIM:606069
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal obesity, Hypercholest... OMIM:615812
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... OMIM:619048
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Elevated circulating creatine kinase concentration, Hepatic steatosis, Decrea... ORPHA:435660
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-resist... ORPHA:2457
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... ORPHA:66628
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabete... ORPHA:435651
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline... ORPHA:2298
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Failure to thrive, Elevated circulating acylcarnitine concentration, Ketotic h... ORPHA:26792
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Diabetes mellitus, Abnormal circulating lipid concentration OMIM:608709
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... ORPHA:179494
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... ORPHA:276575
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... ORPHA:276580
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Increased C-peptide level, Insulin re... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... OMIM:619386
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles... OMIM:618620
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:369
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... ORPHA:35878
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... ORPHA:26793
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... ORPHA:681
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancr... OMIM:151660
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Impaired gluconeoge... OMIM:261680
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... OMIM:617253
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... OMIM:255120
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Adrenocortical hypoplasia, Hypoglycemia, Hypert... OMIM:307030
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... OMIM:616829
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Weight loss, Elevated transferrin sat... ORPHA:465508
Cholesteryl Ester Storage Disease
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... ORPHA:75234
Glycogen Storage Disease Ixb
Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle g... OMIM:261750
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Pancreatitis, Hepatic steatosis,... ORPHA:79083
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Abnormal circulating lipid concentration, Insulin resistance, Hepati... ORPHA:79086
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Decreased response to... ORPHA:71526
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Donohue Syndrome
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Postprandial hyperglycemia, Cholestasis, ... OMIM:246200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Hyperl... ORPHA:90970
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperglycemia, Ac... OMIM:615453
Dysbetalipoproteinemia
Hypothyroidism, Hypertriglyceridemia, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, I... ORPHA:412
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... OMIM:278000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... OMIM:212140
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... OMIM:600649
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, D... ORPHA:444490
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... OMIM:605814
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Precocious puberty, Small for gestational age, Maturi... OMIM:616222
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, D... OMIM:615710
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... OMIM:201450
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase OMIM:618400
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic... ORPHA:2126
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hypertrigly... ORPHA:2348
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular ... ORPHA:370
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... OMIM:232400
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased body weight, Elevated hepatic transa... ORPHA:264580
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholest... ORPHA:209902
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose int... OMIM:608612
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H... OMIM:607616
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... ORPHA:263455
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepa... ORPHA:42
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperuricemia, Hyperlipidemia ORPHA:364
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Neo... ORPHA:73272
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Elevated hepatic transam... ORPHA:79240
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h... OMIM:231530
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Small for gestational age, Hyponatremia, Hyperglycemia, Peritonitis ORPHA:391673
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Decreased plasma carnitine... OMIM:201475
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia ORPHA:941
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Impaired glucose tolerance, Calcinosis, Hepatomegaly, Ins... OMIM:248370
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... OMIM:231100
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Elevated circulating creatin... OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen... OMIM:603552
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function OMIM:601466
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Elevated hepatic transaminase, Glucose intolerance ORPHA:75563
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Decreased plasma carni... ORPHA:99901
Aromatase Deficiency
Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, Hepatic steatosis, Hypergonadot... ORPHA:91
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance ORPHA:369873
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Hypertriglyceridemia, Elevated hepatic transaminase, Hepa... ORPHA:247585
Isolated Sedoheptulokinase Deficiency
Hepatitis, Steatorrhea, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Porta... ORPHA:440713
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypoalbu... OMIM:617575
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Elevated circulating creatine kinase concen... OMIM:212138
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia... OMIM:269880
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Failure to thrive, Acute hyperammonemia OMIM:210200
Beta-Ketothiolase Deficiency
Hyperuricemia, Weight loss, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperglycemia ORPHA:134
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple... OMIM:300635
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function OMIM:617093
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... ORPHA:209919
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypothyroidism, Hypopituitarism, Hypercholesterolemia ORPHA:90065
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... ORPHA:97279
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... OMIM:619418
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... ORPHA:79319
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin... ORPHA:101330
Werner Syndrome
Elevated circulating alanine aminotransferase concentration, Hypogonadism, Elevated circulating a... OMIM:277700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... ORPHA:769
Chylomicron Retention Disease
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... ORPHA:71
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Decreased serum leptin, D... ORPHA:280365
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Very long chain fatty a... ORPHA:98908
Fructose-1,6-Bisphosphatase Deficiency
Hyperuricemia, Hyperalaninemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic ste... ORPHA:348
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Elevated hepatic tra... OMIM:608594
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... OMIM:301045
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Failure to thrive, Insulin resistance OMIM:214150
Monosomy 13Q34
Hepatic steatosis, Obesity, Insulin resistance, Hypercalcemia ORPHA:96168
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper... OMIM:614736
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Failure to thrive, Hy... OMIM:609069
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Conjugated hyperbili... ORPHA:3111
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Hypoglycem... ORPHA:3008
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Hyper... OMIM:617156
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu... ORPHA:230
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... ORPHA:567983
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly OMIM:613101
Congenital Disorder Of Glycosylation, Type It
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... OMIM:614921
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity, Hypogonadism OMIM:615996
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly ORPHA:156
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia, Adrenocorticot... OMIM:201400
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... OMIM:269700
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... OMIM:618805
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... OMIM:615363
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly ORPHA:664
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... ORPHA:139491
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Decreased liver function, Periportal fibrosis, Elevated hepatic... OMIM:124000
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypogonadism ORPHA:791
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... OMIM:264470
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... ORPHA:79303
Hypobetalipoproteinemia, Familial, 1
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... OMIM:615558
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... ORPHA:541423
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Elevated circulating glutaric acid concent... OMIM:231680
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hep... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Failure to thrive,... OMIM:267700
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Hyperalaninemia, Hyperprolinemia OMIM:615918
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypergonadotropic hypogonadism ORPHA:3085
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... ORPHA:228308
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... OMIM:214900
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Failure to thrive,... OMIM:615947
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Decreased... OMIM:608836
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Steatorrhea, Failure... OMIM:602579
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... OMIM:256810
Tangier Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulating apolipoprotein A-I c... OMIM:205400
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cell... ORPHA:99885
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Insulin resistance, Hyperlipidemia, Calcinosis ORPHA:90154
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... ORPHA:53693
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Hypokalemia,... ORPHA:508
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... OMIM:617049
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Hypoglycemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:611126
Silver-Russell Syndrome
Precocious puberty, Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thr... ORPHA:813
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct prolif... OMIM:618329
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hypothyroidism, Hyperuricemia, Thyroiditis, Hepatocellular carcinoma, Hepat... ORPHA:79259
Whipple Disease
Hypothyroidism, Cachexia, Insulin resistance, Hepatomegaly, Hyponatremia, Splenomegaly ORPHA:3452
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxi... ORPHA:79102
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Combined Oxidative Phosphorylation Deficiency 9
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin... OMIM:614582
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight OMIM:182290
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Goiter, Insulin-resistant diabetes mell... OMIM:210740
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Congenital Isolated Acth Deficiency
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorti... ORPHA:199296
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Apolipoprotein C-Ii Deficiency
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Short Syndrome
Diabetes mellitus, Insulin resistance, Weight loss ORPHA:3163
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Wilson Disease
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... ORPHA:905
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated circulating aspa... ORPHA:158061
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Elevated hepatic transa... ORPHA:98907
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... OMIM:614300
Atypical Werner Syndrome
Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Hep... ORPHA:79474
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Hemochromatosis, Type 1
Splenomegaly, Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Elevated hepatic transam... OMIM:235200
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Hypoglycemia, Hypocalcemia OMIM:228100
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... OMIM:615438
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Cholec... ORPHA:90041
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Abnormal circulating lipid concentration, Insulin resistance, Diabetes mellitus, ... OMIM:616541
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Small for gestational age, Neoplasm of the pancreas, Elevated hepatic ... ORPHA:2959
Ddost-Cdg
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Primary hypothyroidism ORPHA:300536
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Diabetes mellitus, Delayed pube... OMIM:616263
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... OMIM:618641
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Fructose Intolerance, Hereditary
Cirrhosis, Hyperuricemia, Glycosuria, Jaundice, Hypophosphatemia, Elevated hepatic transaminase, ... OMIM:229600
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly ORPHA:2849
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Hypona... ORPHA:275761
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Chronic hepatic failure, Hypoparathyroidism,... ORPHA:746
Pancreatic Agenesis 1
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreati... OMIM:260370
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Failure t... OMIM:603553
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hyperlipoproteinemia, Type V
Decreased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Diabetes melli... OMIM:144650
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Failure to thrive, Decreased liver function ORPHA:70472
Estrogen Resistance Syndrome
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... ORPHA:785
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Hypogonadism, Insulin resistance, Biliary tract abnormality, Diabetes mellitus,... OMIM:209900
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Smith-Magenis Syndrome
Hypothyroidism, Hypertriglyceridemia, Precocious puberty, Delayed puberty, Hypercholesterolemia, ... ORPHA:819
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational age, Diabetes ... OMIM:616026
Liver Failure, Infantile, Transient
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... OMIM:613070
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... ORPHA:293987
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia ORPHA:445038
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Hyperalaninemia, Weight loss, Cachexia, Elevated hepatic transaminase, Hypergonadotrop... ORPHA:298
Werner Syndrome
Thyroid carcinoma, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Slender build ORPHA:902
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomega... ORPHA:540
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... ORPHA:567548
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... OMIM:238600
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Neonatal hypogly... ORPHA:66634
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Hyperuricemia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancr... ORPHA:93111
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Interstitial Lung And Liver Disease
Hypothyroidism, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ci... OMIM:615486
Glycogen Storage Disease Ia
Hyperuricemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Delayed pub... OMIM:232200
H Syndrome
Hypogonadism, Hepatosplenomegaly, Diabetes mellitus, Delayed puberty, Hypertriglyceridemia ORPHA:168569
Gitelman Syndrome
Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the pancreas, ... ORPHA:358
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... ORPHA:650
Dpm1-Cdg
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Failure t... ORPHA:79322
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age, Steatorrhea, Diabetes mellitus, Pancreatic apla... OMIM:615935
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Hepatic steatosis, Hyperlipidemia, Obesity ORPHA:254346
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
3-Hydroxy-3-Methylglutaric Aciduria
Hyperuricemia, Weight loss, Nonketotic hypoglycemia, Jaundice, Elevated hepatic transaminase, Acu... ORPHA:20
Immunodeficiency 47
Hypercholesterolemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentrati... OMIM:300972
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency ORPHA:977
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:96182
Autoimmune Hepatitis
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati... ORPHA:2137
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Elevated circulating crea... ORPHA:98855
Wilson Disease
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Glycosur... OMIM:277900
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Hepatic steatosis, Hypopara... ORPHA:699
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... ORPHA:157
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Impaired glucose tolerance, Small for gestational age, Insulin resistance... OMIM:606721
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Hypoplastic spleen, Increased circulating ferritin concentration, Hypoplasi... OMIM:619313
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Diffuse hepatic steatosis, Failure to thrive, Hepatomegaly, Decreased liver function ORPHA:436271
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Elevated circulating crea... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Elevated circulating crea... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Elevated circulating crea... ORPHA:98853
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly OMIM:618398
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Glycosuria, Diabetes mellitus, Failur... OMIM:600001
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615595
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hepatic failure, Abnormal circulating lipid concentration, Hypersplenism, Neoplasm of ... ORPHA:77293
Scorpion Envenomation
Glycosuria, Hypokalemia, Elevated circulating aspartate aminotransferase concentration, Increased... ORPHA:466677
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Abnormal circulating creatine kinase concentrat... ORPHA:369840
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Hepatosplenomegaly,... OMIM:619487
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ... ORPHA:470
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Small for gestational age, Failure to thrive, Hypoglycemia, Hyp... OMIM:220111
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Failure to thrive, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:617591
Xp21 Deletion Syndrome
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... ORPHA:261476
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Slender build, Small for gestational age, Unconjugated hyperbilirubinemia, Elevated he... OMIM:613658
Glycogen Storage Disease Ib
Hyperuricemia, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemi... OMIM:232220
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Hyperhomocystinemia, Hepatic steatosis, Failure to thrive, Pancreatitis OMIM:236200
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Elevated circulating alanine aminotransferase concentration, Microvesicular he... OMIM:610198
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Elevated hepatic transaminase, Elevated hemoglobin A1c, Hepatomegaly, Hypert... OMIM:619127
Abetalipoproteinemia
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Hyperbiliru... ORPHA:14
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly OMIM:619802
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic fibrosis, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, ... OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased intramyocellular lipid droplets, Failure to thrive, Hepatomegaly, Decreased... OMIM:220110
D-Bifunctional Protein Deficiency
Very long chain fatty acid accumulation, Increased circulating very long-chain fatty acid concent... OMIM:261515
Bloom Syndrome
Hepatic steatosis, Type II diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c OMIM:210900
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Hypokalemia, Portal fibrosis, Fa... OMIM:619377
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Hypertriglyceridemia ORPHA:536532
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Elevated hepatic transaminase, Increased intramyocellular lipid droplets,... ORPHA:17
Steinert Myotonic Dystrophy
Hypercholesterolemia, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Ab... ORPHA:273
Combined Oxidative Phosphorylation Deficiency 12
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:614924
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyponatremia, Hyp... OMIM:618183
Immunodeficiency 87 And Autoimmunity
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation... OMIM:619573
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Bloom Syndrome
Small for gestational age, Diabetes mellitus, Insulin resistance, Abdominal obesity ORPHA:125
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis OMIM:616672
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Elevated circulating creatine kinase concentration, Diabetes mellitus, Hepatomegaly... ORPHA:565612
Liver Disease, Severe Congenital
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E... OMIM:619991
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test ORPHA:444077
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Impaired glucose tolerance, Eleva... OMIM:256040
Alagille Syndrome 1
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Reduced numb... OMIM:118450
Nephrotic Syndrome, Type 1
Hypothyroidism, Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Hypoglycemia, Dela... OMIM:232240
Aapoaiv Amyloidosis
Diabetes mellitus, Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypercalcemia, Hypoparathyroidism, Hypertriglyceridemia ORPHA:369837
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomegaly, Hyperp... ORPHA:158048
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev... OMIM:619525
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... ORPHA:99226
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hype... ORPHA:363618
Chédiak-Higashi Syndrome
Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating ferritin conce... ORPHA:167
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Diabetes mellitus, Decreased seru... OMIM:241080
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Griscelli Syndrome Type 2
Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly ORPHA:79477
Immunodeficiency 40
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:616433
Cimdag Syndrome
Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Splenomegaly, Hepatomegaly, Hypoalbuminemia OMIM:617303
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... ORPHA:86816
Alström Syndrome
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Decreased circulating T4 co... ORPHA:64
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly ORPHA:31150
Wiedemann-Rautenstrauch Syndrome
Increased serum estradiol, Increased circulating prolactin concentration, Increased serum testost... ORPHA:3455
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Weight loss, Hepatitis, Hepatic steatosis, Increased circulating ferritin concent... OMIM:615846
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Decreased LDL choles... ORPHA:404454
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... OMIM:176270
X-Linked Lymphoproliferative Disease
Hepatic failure, Fulminant hepatitis, Hepatic necrosis, Elevated hepatic transaminase, Hepatosple... ORPHA:2442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kin... OMIM:615356
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Pubertal developmental failure in females, Weight loss, Insulin resistance, ... ORPHA:740
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Failu... OMIM:203700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatocellular necrosis, Unconjugated hyperbilirubinemia, Hepat... OMIM:618278
Smith-Lemli-Opitz Syndrome
Cirrhosis, Precocious puberty, Hepatic steatosis, Failure to thrive, Hepatomegaly, Cholestatic li... OMIM:270400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Decreased body weight, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:619475
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Increased serum testosterone level, Small for gestational age, Failure ... OMIM:264090
Ogden Syndrome
Microvesicular hepatic steatosis, Jaundice, Maternal diabetes, Hyperbilirubinemia, Macrovesicular... OMIM:300855
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Azotemia OMIM:619321
Pmm2-Cdg
Hepatic fibrosis, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:79318
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Microvesicular hepatic steatosis, Large for gestational age, Hepatomegaly, Elevated he... OMIM:300868
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Cirrhosis OMIM:243910
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Abnormality of the thy... OMIM:188400
1P36 Deletion Syndrome
Hypothyroidism, Abnormality of the liver, Hypogonadism, Hepatic steatosis, Failure to thrive, Ann... ORPHA:1606
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Hypocalcemia, Thyroid hypoplasia, Hepatosp... OMIM:619503
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400

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 Mgat4a

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 Mgat4a.

No publications found that use IMPC mice or data for Mgat4a.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Mgat4atm79966(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter