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Gene: Mgat4a MGI:2662992

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Increased LDL cholesterol c... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyp... OMIM:604367
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Childhood-onset truncal obesity, Type II diabetes mellitus, Hypertrigl... ORPHA:71529
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Sp... OMIM:612526
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hepatic steatosis, Hyperinsulinemia, Insulin-resistan... ORPHA:280356
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... ORPHA:79084
Mody
Glycosuria, Exocrine pancreatic insufficiency, Large for gestational age, Neonatal hypoglycemia, ... ORPHA:552
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hype... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adiponectin level,... ORPHA:79085
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... ORPHA:324575
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Increased C-peptide level, Decre... ORPHA:71212
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Type I diabetes mellitus OMIM:618856
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid concentration, ... OMIM:615980
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Elevated hepatic transaminas... ORPHA:2089
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Decreased adip... OMIM:615238
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatic failure, Hepatomegaly, Fa... OMIM:617872
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619048
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adiponectin level,... ORPHA:435660
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Decreased adiponectin level, Insulin-resistant d... ORPHA:435651
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine co... ORPHA:26792
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plas... OMIM:212140
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Obesity,... ORPHA:179494
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanine aminotransferase ... ORPHA:2088
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Hypertriglyceridemia, Cirr... ORPHA:363400
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insulin resistance, ... ORPHA:528
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... ORPHA:276556
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Insulin resistance, Hepatomegaly, Elevated hepatic transaminase, Diabetes mell... OMIM:615381
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Failure ... OMIM:220111
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Temple Syndrome
Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity, Hypertriglyceridemi... OMIM:616222
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71526
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Insu... OMIM:151660
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive... ORPHA:369
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypothyroidism, Hypogonadotropic hypogonadism, Port... ORPHA:465508
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Jaundice, Overwe... ORPHA:26793
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, ... OMIM:618620
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Severe fa... OMIM:246200
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, F... OMIM:605814
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Increased circ... ORPHA:444490
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Insulin-resistant diabetes mel... ORPHA:79083
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Adrenal calcification, P... OMIM:278000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis,... OMIM:261680
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Hyperbilirubinemia, Acho... OMIM:615710
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Obesity, Hepatomegal... ORPHA:412
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Postprandial hyper... ORPHA:681
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Smal... ORPHA:79237
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... OMIM:617253
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Type II diabetes mellitus, P... ORPHA:90970
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the live... ORPHA:2126
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... ORPHA:228305
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Decreased plasma carnitine, Hepatomegaly, Elevated hepatic trans... OMIM:201450
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatoc... ORPHA:370
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Diabetes mellitus, Hypertrigly... ORPHA:2348
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia, Eleva... OMIM:600649
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cholestasis, Hypercholesterolemia, Splenom... ORPHA:264580
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, E... OMIM:232400
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Alstrom Syndrome
Hypothyroidism, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogo... OMIM:203800
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... ORPHA:209902
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... ORPHA:79240
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Hyperglycemia OMIM:609069
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Failure to t... OMIM:256810
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Calcinosis, Hyperglycemia,... OMIM:248370
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Elevated cir... OMIM:613327
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Decreased plasma total carnitine, Decreased liver function, Hepa... ORPHA:42
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis, H... OMIM:602579
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... ORPHA:73272
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Hypoglycemia, Cholestasis, Hepatoc... OMIM:231100
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Hypog... OMIM:617575
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Decreased plasma carnitine, Hepa... OMIM:201475
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia, Fulminant h... OMIM:231530
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Short Syndrome
Glucose intolerance, Hyperglycemia, Small for gestational age, Insulin-resistant diabetes mellitus OMIM:269880
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transami... OMIM:619013
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Failure to thrive, ... OMIM:614300
Mpi-Cdg
Hypothyroidism, Portal hypertension, Decreased liver function, Hepatomegaly, Failure to thrive, H... ORPHA:79319
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia, Acute hyperammonemia OMIM:210200
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Abdominal obesity, Increased urinary cortisol level, Paradoxic... ORPHA:189439
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Eunuchoid habitus, Type II diabet... ORPHA:91
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dec... ORPHA:99901
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperuricemia, Hyperglycemia, Weight loss, Hyperammonemia ORPHA:134
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Elevated hepatic transaminase, Abnormality of iron homeostasis ORPHA:75563
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hepatitis, Hypertriglyc... OMIM:300635
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Cholestasis, Hepatitis, Cholestatic liver disease, Postprandial hyperglycemi... ORPHA:440713
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Elevated circulating creati... OMIM:212138
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Inc... ORPHA:769
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Decreased adiponectin level, D... ORPHA:280365
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Obesity, Hyperinsulinemia ORPHA:791
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Hyperammonemia ORPHA:35
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dep... OMIM:260370
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Hyper... ORPHA:348
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglycemia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Small fo... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Familial Multiple Lipomatosis
Hyperlipidemia, Insulin resistance ORPHA:199276
Monosomy 13Q34
Obesity, Hepatic steatosis, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Obesity, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resi... OMIM:608594
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Acth Deficiency, Isolated
Fasting hypoglycemia, Cholestasis, Decreased circulating cortisol level, Adrenal hypoplasia, Adre... OMIM:201400
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase ORPHA:156
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Insulin resistance, Hyperinsulinemia... ORPHA:230
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Failure to thrive in infancy, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... ORPHA:247598
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Decreased serum zinc, Cholestasis, Elevat... ORPHA:541423
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Chr... OMIM:614921
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis, Jaundice,... OMIM:231680
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resi... OMIM:269700
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubi... ORPHA:79303
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated ci... ORPHA:228308
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Splenomegaly, ... ORPHA:158057
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Hyperkalemia, Congenital hypothyroidism, Failure to thrive, Precociou... OMIM:614736
Leprechaunism
Hypokalemia, Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemia, C... ORPHA:508
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Hepatomegaly, Failure to thrive, Diabetes mellitus, Pancreatic... OMIM:616263
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase OMIM:611126
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia ORPHA:2849
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Diabetes melli... ORPHA:98908
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Hyperlipidemia, Insulin resistance, Calcinosis ORPHA:90154
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Whipple Disease
Hypothyroidism, Hyponatremia, Insulin resistance, Splenomegaly, Hepatomegaly, Cachexia ORPHA:3452
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Decreased circulating cortisol level,... ORPHA:199296
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... ORPHA:813
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Hyperchol... ORPHA:79259
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... OMIM:210740
Short Syndrome
Weight loss, Diabetes mellitus, Insulin resistance ORPHA:3163
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... ORPHA:905
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating alanine aminotransferase conce... ORPHA:158061
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Bardet-Biedl Syndrome 1
Insulin resistance, Obesity, Truncal obesity, Biliary tract abnormality, Diabetes mellitus, Abdom... OMIM:209900
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Hepatic failure, Elevated circulating alanine aminotransferase concen... OMIM:617049
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Nonketotic hypoglycemi... OMIM:608836
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Hepatomegaly, Jaund... OMIM:229600
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Primary adrenal insufficiency, Hepatic steatosis OMIM:300270
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Splenomegaly, Hepato... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Decreased liver function, Failure to thrive, Elevated hepa... OMIM:618329
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Gaisböck Syndrome
Increased circulating renin level, Hypercholesterolemia, Cholecystitis, Obesity, Overweight, Hype... ORPHA:90041
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Delayed puberty, Insulin-... ORPHA:79474
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Elevated hepatic t... ORPHA:71
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Hypocalcemia, Jaundice OMIM:228100
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Di... OMIM:616541
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Episodic hypokalemia, Thyrotoxicosis with diffuse ... ORPHA:79102
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Small for gestational age, Decreased serum testosterone concentration, Decreas... ORPHA:2959
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Ddost-Cdg
Failure to thrive, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic transaminase ORPHA:300536
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormality of the hypothalamus-pituitary ax... ORPHA:293987
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia, Hypoparathyroi... ORPHA:746
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Primary adrenal insufficiency, Hepatosplenomeg... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Insulin resistance ORPHA:90153
Hyperlipoproteinemia, Type V
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Diabete... OMIM:144650
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Hypoglycemia, Hepatomegaly, Hypouricemia, Elevated hepatic... OMIM:616026
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... OMIM:603553
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Elevated circulating creatine kinase concentration, Failure to thrive, ... OMIM:610131
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis, Decreased liver functio... OMIM:124000
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... ORPHA:1414
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... ORPHA:567548
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Jaundice, S... ORPHA:540
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Macrovesicular hepatic steatosis, Weight loss, Elevated hepatic tr... ORPHA:298
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
H Syndrome
Hepatosplenomegaly, Diabetes mellitus, Hypertriglyceridemia, Delayed puberty, Hypogonadism ORPHA:168569
Smith-Magenis Syndrome
Hypothyroidism, Failure to thrive in infancy, Hypercholesterolemia, Obesity, Precocious puberty, ... ORPHA:819
Interstitial Lung And Liver Disease
Hypothyroidism, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hep... OMIM:615486
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating creatine kin... ORPHA:98907
Gitelman Syndrome
Diabetic ketoacidosis, Hypokalemia, Hypermagnesemia, Primary hyperaldosteronism, Insulin resistan... ORPHA:358
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia, Elevated circulating glu... ORPHA:66634
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Hypothyroidism, Hepatic steatosis, Jaundice, Hyperu... ORPHA:93111
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Hypothyroidism, Hepatic failure, Hypokalemia, Macr... ORPHA:699
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Small for gestational age, Failure to thrive, Precociou... ORPHA:96182
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarni... ORPHA:157
19P13.12 Microdeletion Syndrome
Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Obesity, Precocious puberty ORPHA:254346
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... ORPHA:98855
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Thyroiditis, Elevated... ORPHA:2137
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transami... OMIM:232200
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Elevated circulating creatine kinase concent... ORPHA:79322
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Recurrent pancreatitis, Hypercholesterolemia, Small for gestational age, Fail... OMIM:606721
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Pancreatic hypoplasia, Failure to thrive, Biliary atresia, Diabet... OMIM:600001
Lysinuric Protein Intolerance
Hepatic failure, Pancreatitis, Decreased response to growth hormone stimulation test, Hyperammone... ORPHA:470
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic steatosis, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase... OMIM:212065
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Hypersplenism, Hyperlipidemia, Abnormal circulating lipid concen... ORPHA:77293
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic steatosis, Portal hypertension, Acute pancreatitis, Hepatosplenomegaly, H... OMIM:619487
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... ORPHA:98853
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulation in hepato... ORPHA:20
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Decreased liver function, Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transami... OMIM:232220
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Hypokalemia, Elevated circulating aspartate aminotransferase conc... ORPHA:466677
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia OMIM:618398
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Increased circulating ferritin concentration, Hypertriglyceridemia, Hyp... OMIM:619313
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Hypertriglyceridemia OMIM:617591
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Elevated cir... ORPHA:261476
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Hepatic steatosis, Hypermethioninemia, Failure to thrive, Pancreatitis OMIM:236200
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Hypoglycemia, Portal hypertension, Cholestasis, Slender build, Bile duct proli... OMIM:613658
Abetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Decreased LDL cholesterol concentration, Hypotriglyceridemia, ... ORPHA:14
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Elevated hemoglobin A1c, Elevated hepatic transaminase, Hypertriglyceridemia, Gluco... OMIM:619127
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Glycogen Storage Disease Ic
Hepatoblastoma, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, ... OMIM:232240
Werner Syndrome
Insulin resistance, Slender build, Type II diabetes mellitus, Thyroid carcinoma, Hypogonadism ORPHA:902
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... OMIM:619377
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Hypertriglyceridemia ORPHA:536532
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly, Fail... OMIM:220110
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Hypercho... ORPHA:273
D-Bifunctional Protein Deficiency
Hepatic steatosis, Primary adrenal insufficiency, Cholestasis, Bile duct proliferation, Splenomeg... OMIM:261515
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Failure to thr... OMIM:256040
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hepatic failure, Papillary thyroid carcinoma, Cholestasis, Hyp... OMIM:118450
Bloom Syndrome
Small for gestational age, Diabetes mellitus, Insulin resistance, Abdominal obesity ORPHA:125
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hypoglycemia, Methylmalonic acidemia, Hepatomegaly, Failure to thrive, Elevate... ORPHA:17
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Obesity, Hypothyroidism, Hyperglycemia ORPHA:444077
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:619573
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated hepatic transa... ORPHA:158048
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Obesity, Precocious puberty, Hypoparathyroidism, Hypertriglyceridemia ORPHA:369837
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Pulmonary carcinoid tumor, Abnormality of the intrahe... ORPHA:363618
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration, D... ORPHA:565612
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Hyperinsulinemia, Failure to thrive in infa... ORPHA:99413
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Hyperinsulinemia, Failure to thrive in infa... ORPHA:881
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Hyperinsulinemia, Failure to thrive in infa... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Hyperinsulinemia, Failure to thrive in infa... ORPHA:99226
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... ORPHA:167
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Decreased serum testosterone concentration, Elevat... OMIM:241080
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Failure... OMIM:203700
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia ORPHA:79477
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Alström Syndrome
Hepatic failure, Decreased circulating T4 level, Increased circulating androgen concentration, Ab... ORPHA:64
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Splenomegaly, Hepatomegaly, Hypoalbuminemia OMIM:617303
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Obesity, Hypoal... ORPHA:86816
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Hypogonadism OMIM:619273
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Hepatic steatosis, Slender build, Increased serum testosterone lev... ORPHA:3455
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated hepatic transamin... OMIM:615356
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Decreased live... ORPHA:2442
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Insulin resistance, Severe failure to thrive, Pubertal developmental failure... ORPHA:740
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Small for gestational age, Hypotriglyceridemia, Splenomegaly, H... ORPHA:404454
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Failure to thrive, Hypertriglyceridemia OMIM:264090
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Pmm2-Cdg
Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Elevated circulating growth ... ORPHA:79318
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Decreased body weight, Obesity, Jaundice, Overweight, Failure to thrive, Hyper... OMIM:619475
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Abdominal obesity, Azotemia, Hypoplasia of the ovary OMIM:619321
Digeorge Syndrome
Cholelithiasis, Hypothyroidism, Hepatic steatosis, Parathyroid agenesis, Abnormality of the thymu... OMIM:188400
1P36 Deletion Syndrome
Hypothyroidism, Hepatic steatosis, Abnormality of the liver, Obesity, Failure to thrive, Abnormal... ORPHA:1606
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, H... OMIM:619503
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968

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.

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

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