Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pik3c2g 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 Pik3c2g 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
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance ORPHA:2398
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Increased LDL cholesterol c... OMIM:615703
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipo... ORPHA:280356
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutane... OMIM:604367
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Lipase Deficiency, Combined
Lipodystrophy, Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mell... ORPHA:79084
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fa... ORPHA:324575
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Chole... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Chole... ORPHA:71526
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
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
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, De... ORPHA:435651
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly, Failure to thrive in infancy OMIM:619175
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276575
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
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, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Mody
Large for gestational age, Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, ... ORPHA:552
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Decreased circulatin... ORPHA:276556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hepatomegaly, Fa... OMIM:617872
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, F... OMIM:605814
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619048
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Small for gestational age,... ORPHA:79237
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:66628
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine co... ORPHA:26792
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:179494
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Lipoatrophy, Hepa... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Loss of subcutaneous adipose tissue in limbs, Lipoatrophy,... ORPHA:79083
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plas... OMIM:212140
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased ... OMIM:616828
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Obesity, Cholesterol gallstones, Acute hepa... ORPHA:209902
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanine aminotransferase ... ORPHA:2088
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypothyroidism, Hypercholesterolemia, Obesity, Hepatomegal... ORPHA:412
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Adrenal calcification, P... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis, H... OMIM:602579
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, ... OMIM:618620
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty, Increased hepatic glycogen content, Hepatomegaly, ... ORPHA:369
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Acute pancreatitis, Recurrent pancreatitis, Hepatosplen... ORPHA:444490
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Loss of facial adipose tissue, Hyperinsulinemia, Hyperlipidemia, Decreased a... OMIM:608612
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Mpi-Cdg
Hypothyroidism, Portal hypertension, Decreased liver function, Hepatomegaly, Failure to thrive, H... ORPHA:79319
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Femoral hernia, Inguinal hernia, Ta... ORPHA:2849
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cholestasis, Hypercholesterolemia, Delayed... ORPHA:264580
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Hypoglycemic seizures, Gonadotropin deficiency, Cholestasis, Obesity, Adre... OMIM:609734
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Delayed puberty, Sple... ORPHA:370
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Adipose t... OMIM:246200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, Hyperuricemia, D... ORPHA:77296
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Insulin resistance, Increased adipose tissue, Overgrowth ORPHA:199276
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Increased C-peptide level, Decre... ORPHA:71212
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... ORPHA:79240
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Adrenal hyperplasia, Pigmented micronodular adrenocortical dis... ORPHA:189439
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Elevated hepatic transaminas... ORPHA:2089
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Decreased circulating T4 level, Hyperphosphatemia, Elevate... ORPHA:94086
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... OMIM:617253
Alstrom Syndrome
Hepatic steatosis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hepatomegaly, Hypergonad... OMIM:203800
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Failure to thrive, ... OMIM:614300
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis,... OMIM:261680
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Hypoglycemia, Decreased plasma total carnitine, Decreas... ORPHA:42
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Decreased liver function, Elevated hepatic transaminase, Hepatic steatosis OMIM:617093
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Obesity, Truncal obesity, Precocious puberty, Ma... ORPHA:96184
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Delayed menarche, Hypercholesterolemia, Eleva... ORPHA:247585
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Failure to t... OMIM:256810
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Hypergonadotropic hypogonadism, E... ORPHA:91
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, E... OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia, Eleva... OMIM:600649
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Decreased plasma carnitine, Hepatomegaly, Elevated hepatic trans... OMIM:201450
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... ORPHA:228305
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transami... OMIM:619013
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
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hepatitis, Hypertriglyc... OMIM:300635
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Increased body ... ORPHA:890
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Corneal scarrin... ORPHA:101330
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Failure to thrive, Elevated hepatic tra... ORPHA:300536
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Failure ... OMIM:220111
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Small fo... ORPHA:567983
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... ORPHA:247598
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Decreased plasma carnitine, Hepa... OMIM:201475
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Acute hyperammonemia OMIM:210200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia, Fulminant h... OMIM:231530
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increase... OMIM:615830
Monosomy 13Q34
Hepatic steatosis, Obesity, Insulin resistance, Infantile hypercalcemia ORPHA:96168
Cog4-Cdg
Hepatosplenomegaly, Failure to thrive in infancy, Hypercholesterolemia, Fatal liver failure in in... ORPHA:263501
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Failur... ORPHA:905
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypoalbuminemia, Hypertriglyceridemia, Hypog... OMIM:617575
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dec... ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubi... ORPHA:79303
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Bili... ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Flexion contracture, Splenomegaly, Hepatomegaly, Failure to thrive, Panniculitis, ... OMIM:617591
Growth Factors, Combined Defect Of
Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Insulin-resistant diabet... OMIM:233805
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Fasting hypoglycemia, Increased C-peptide level, Insulin resi... ORPHA:769
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Elevated hepatic t... ORPHA:71
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Inguinal hernia, Biliary tract abnormality, Ty... ORPHA:3191
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypothyroidism, Hypogonadotropic hypogonadism, Port... ORPHA:465508
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Elevated circulating creati... OMIM:212138
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Delayed puberty, Hepatomegaly, Failure to... OMIM:616263
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Elevated hepatic transaminase, Abnormality of iron homeostasis ORPHA:75563
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Calcinosis, Delayed puberty ORPHA:90154
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Insulin resistance, Small for gestational age, Recurrent pancreatitis, Hypercholes... OMIM:606721
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Splenomegaly, ... ORPHA:158057
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dep... OMIM:260370
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hypokalemia, Adrenocortical carcinoma, Incre... ORPHA:1501
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Hyper... ORPHA:348
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Hypoglycemia, Hepatomegaly, Hypouricemia, Diabetes mellitu... OMIM:616026
Gaisböck Syndrome
Increased circulating renin level, Hypercholesterolemia, Cholecystitis, Obesity, Overweight, Hype... ORPHA:90041
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Failure to thrive, Diab... OMIM:609069
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Bardet-Biedl Syndrome 1
Insulin resistance, Obesity, Truncal obesity, Diabetes mellitus, Biliary tract abnormality, Abdom... OMIM:209900
X-Linked Acrogigantism
Diabetes insipidus, Delayed puberty, Increased serum insulin-like growth factor 1, Hypopituitaris... ORPHA:300373
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating alanine aminotransferase conce... ORPHA:158061
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Leprechaunism
Hypokalemia, Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemia, I... ORPHA:508
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Hypercholesterolemia, Reduced radio... ORPHA:90674
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Decreased serum zinc, Cholestasis, Elevat... ORPHA:541423
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia, Splenomegaly OMIM:618398
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Multiple joint contractures, Small for gestational age, Delayed puberty, Decre... ORPHA:2959
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus ORPHA:2377
Leptin Receptor Deficiency
Delayed puberty, Obesity, Decreased response to growth hormone stimulation test, Diabetes mellitu... OMIM:614963
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia, Hypogonadotropic hypogonadism OMIM:600955
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Chr... OMIM:614921
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis, Jaundice,... OMIM:231680
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Short Syndrome
Lipodystrophy, Small for gestational age, Lipoatrophy, Insulin-resistant diabetes mellitus, Ingui... OMIM:269880
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase ORPHA:156
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, In... OMIM:616541
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Glucose intolerance, Hepatic f... OMIM:615630
Whipple Disease
Hypothyroidism, Hyponatremia, Insulin resistance, Splenomegaly, Hepatomegaly, Cachexia ORPHA:3452
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hepatic steatosis, Hyperlipidemia, Hypothyroidism, Hyperchol... ORPHA:79259
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Hepatic steatosis, Tall stature, Hypermethioninemia, Inguinal hernia, Failur... OMIM:236200
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Hyponatremia, Primary adre... ORPHA:275761
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... ORPHA:813
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hypothyroidism, Flexion contracture, Hepatomegaly, Hypergonadotropic hypogonad... OMIM:212065
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Hepatic steatosis ORPHA:70472
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Obesity, Diabetes mellitus OMIM:610628
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Precocious puberty, Type II diabetes ... ORPHA:254516
H Syndrome
Lipodystrophy, Hepatosplenomegaly, Hernia, Diabetes mellitus, Hypertriglyceridemia, Camptodactyly... ORPHA:168569
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Hyperbilirubinemia, Acho... OMIM:615710
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Elevated hepat... ORPHA:98908
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Omphal... OMIM:614450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... OMIM:603553
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Insulin resistance, Hyperinsulinemia... ORPHA:230
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated ci... ORPHA:228308
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... ORPHA:567548
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Nonketotic hypoglycemi... OMIM:608836
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Reduced C-... ORPHA:2126
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:607765
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Hepatomegaly, Jaund... OMIM:229600
Central Precocious Puberty
Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, Increased circulating gon... ORPHA:759
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypothyroidism, Hyperlipidemia, Obesity, Precocious puberty, Arthrogryposis mu... ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Decreased liver function, Failure to thrive, Elevated hepa... OMIM:618329
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Knee flexion contracture, Elevated circulati... ORPHA:79322
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase OMIM:611126
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Splenomegaly, Hepato... OMIM:235200
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:615486
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypogona... ORPHA:2234
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Hyperalaninemia, Hypergonadotropic hypogonadism, Elevated hepatic ... ORPHA:298
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... OMIM:210740
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Jaundice, S... ORPHA:540
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Splenomegaly, Elevated circulating sitosterol con... OMIM:210250
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance, Hyperlipidemia ORPHA:90153
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating creatine kin... ORPHA:98907
Smith-Magenis Syndrome
Hypothyroidism, Failure to thrive in infancy, Hypercholesterolemia, Obesity, Precocious puberty, ... ORPHA:819
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Delayed puberty, Generali... ORPHA:79474
Proteasome-Associated Autoinflammatory Syndrome 1
Lipodystrophy, Flexion contracture, Loss of facial adipose tissue, Elbow flexion contracture, Spl... OMIM:256040
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Portal hypertension, Cholestasis, Inguinal hernia, Hepatitis, Postprandial h... ORPHA:440713
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Hypocalcemia, Hypoketotic hypoglycemia, Hypoparathyroi... ORPHA:746
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Elevated circulating creatine kinase concentration, Failure to thrive, ... OMIM:610131
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Postprandial hyper... ORPHA:681
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Gitelman Syndrome
Diabetic ketoacidosis, Hypokalemia, Hypermagnesemia, Primary hyperaldosteronism, Insulin resistan... ORPHA:358
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Lysinuric Protein Intolerance
Hepatic failure, Pancreatitis, Decreased response to growth hormone stimulation test, Hyperammone... ORPHA:470
Werner Syndrome
Lipodystrophy, Insulin resistance, Slender build, Lipoatrophy, Chondrocalcinosis, Type II diabete... ORPHA:902
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Overweight, Dec... ORPHA:99832
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Adrenocortical adenoma OMIM:248100
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis, Decreased liver functio... OMIM:124000
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Abnormality o... ORPHA:363618
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Hypocalcemia, Jaundice OMIM:228100
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Thyroiditis, Elevated... ORPHA:2137
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
Mandibuloacral Dysplasia Progeroid Syndrome
Flexion contracture, Generalized lipodystrophy, Hepatomegaly, Elevated hemoglobin A1c, Elevated h... OMIM:619127
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hypothyroidism, H... OMIM:619487
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Hyperphosphatemia, Elevated circulating parathyr... OMIM:603233
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Hypokalemia, Hepatic failure, Hypothyroidism, Macr... ORPHA:699
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity, Male hypogonadism, Elevated hepatic transaminase, Pancreatitis OMIM:619471
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Decreased liver function, Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Neonatal hypoglycemia, Elevated hepatic transaminase, Hypothyroidism ORPHA:445038
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... OMIM:619377
Nephronophthisis 15
Hepatic failure, Obesity OMIM:614845
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Abetalipoproteinemia
Hepatic steatosis, Hypothyroidism, Decreased LDL cholesterol concentration, Hypotriglyceridemia, ... ORPHA:14
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Jaundice, Overwe... ORPHA:26793
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Hyperlipidemia, Delayed puberty, Abnormal circulating lipid conc... ORPHA:77293
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Hypoglycemia, Portal hypertension, Small for gestational age, Slender build, C... OMIM:613658
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperuricemia, Hyperglycemia, Weight loss, Hyperammonemia ORPHA:134
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertrigl... ORPHA:536532
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Hypothyroidism, Jaundice, Hyperur... ORPHA:93111
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia, Elevated circulating glu... ORPHA:66634
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulation in hepato... ORPHA:20
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 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, Hypoplasia of the thymus, Hyper... OMIM:619313
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Bloom Syndrome
Insulin resistance, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Abdominal ... ORPHA:125
Senior-Loken Syndrome 9
Hypogonadism, Obesity, Cholestasis, Hepatic fibrosis OMIM:616629
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hepatic failure, Papillary thyroid carcinoma, Cholestasis, Hyp... OMIM:118450
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transami... OMIM:232200
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Pituitary adenoma, Abdominal obesity, Glucose intolerance, Impaired glucose... OMIM:219090
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Congenital hypothyroidism, Decreased circulating T4 level, Prolonged n... ORPHA:226313
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglycemia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarni... ORPHA:157
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly, Fail... OMIM:220110
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Cimdag Syndrome
Lipodystrophy, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly, Hypogonadism OMIM:619273
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Atypical scarring of skin, Hyperinsulinemia... ORPHA:99413
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Atypical scarring of skin, Hyperinsulinemia... ORPHA:881
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Atypical scarring of skin, Hyperinsulinemia... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Atypical scarring of skin, Hyperinsulinemia... ORPHA:99226
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transami... OMIM:232220
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Sotos Syndrome
Neonatal hypoglycemia, Prolonged neonatal jaundice, Overgrowth, Glucose intolerance, Tall stature... OMIM:117550
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:619573
D-Bifunctional Protein Deficiency
Hepatic steatosis, Primary adrenal insufficiency, Cholestasis, Bile duct proliferation, Splenomeg... OMIM:261515
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Elevated cir... ORPHA:261476
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hypoglycemia, Flexion contracture, Methylmalonic acidemia, Hepatomegaly, Failu... ORPHA:17
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated hepatic transa... ORPHA:158048
Macrocephaly/Autism Syndrome
Obesity, Splenomegaly, Hepatomegaly OMIM:605309
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Failure... OMIM:203700
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Abnormality of thyroi... ORPHA:273
Megalocornea-Mental Retardation Syndrome
Primary hypothyroidism, Hypercholesterolemia OMIM:249310
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Hyperphosphatemia, Hypocalc... OMIM:612462
Glycogen Storage Disease Ic
Hepatoblastoma, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, ... OMIM:232240
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia ORPHA:79477
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Obesity, Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia ORPHA:369837
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Hypoglycemia OMIM:608624
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... ORPHA:167
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Achilles tendon contracture, Microvesicular hepatic steatosis, Corneal scarring, Small for gestat... ORPHA:404454
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Hypogonadotropic hypogonadism, Slender build, Increased subcutaneous truncal a... ORPHA:3455
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Splenomegaly, Hepatomegaly, Hypoalbuminemia, Macrovesicular hepatic steatosis OMIM:617303
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:226307
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Alström Syndrome
Hepatic failure, Decreased circulating T4 level, Abnormal liver physiology, Hepatitis, Increased ... ORPHA:64
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse ... ORPHA:79102
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypoglycemia, Hyponatremia, Abnormal size of... ORPHA:91355
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Dorsocervical fat pad, Tr... ORPHA:96253
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Pancreatic hypoplasia, Congenital diaphragmatic hernia, Inguinal ... OMIM:600001
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating creatinine concentration, Cholestasis, Diabetes insipidus... OMIM:619534
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hyperlipidemia, Hyponatremia, Central hypoth... ORPHA:293987
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration, D... ORPHA:565612
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Flexion contracture, Azotemia, Abdominal obesity, Hypoplasia of the ovary OMIM:619321
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Flexion contracture, Premature pubarche, Central hypothyroidism, Failure t... ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:98754
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Increased serum testosterone level, Lipoatrophy, Reduced subcutaneous adipos... OMIM:264090
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Atypical scarring of skin, Diabetes insipidus, Hypercholesterolemia, H... ORPHA:534
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated hepatic transamin... OMIM:615356
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Decreased live... ORPHA:2442
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Insulin resistance, Severe failure to thrive, Absence of subcutaneous fat, P... ORPHA:740
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Pmm2-Cdg
Lipodystrophy, Hypogonadotropic hypogonadism, Multiple joint contractures, Insulin resistance, Hy... ORPHA:79318
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Bicarbonaturia, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotei... OMIM:309000
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Decreased serum testosterone concentration, Elevat... OMIM:241080
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Hypothyroidism, Parathyroid agenesis, Hypocalcemia, Obesity, S... OMIM:188400
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Congenital hypothyroidism, Hyperphosphatemia, Di... ORPHA:280651
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus, Precocious puberty OMIM:619269
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Beckwith-Wiedemann Syndrome
Large for gestational age, Exocrine pancreatic insufficiency, Hepatoblastoma, Neonatal hypoglycem... ORPHA:116
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Decreased body weight, Obesity, Jaundice, Overweight, Failure to thrive, Hyper... OMIM:619475
1P36 Deletion Syndrome
Hepatic steatosis, Abnormality of the liver, Hypothyroidism, Obesity, Failure to thrive, Abnormal... ORPHA:1606
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Hypokalemia, Elevated circulating aspartate aminotransferase conc... ORPHA:466677
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hepatic steatosis, Flexion contracture, Hepatosplenomegaly, Portal hyperte... OMIM:619503
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Carney Complex
Papillary thyroid carcinoma, Increased serum insulin-like growth factor 1, Dorsocervical fat pad,... ORPHA:1359
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Obesity, Hyperglycemia ORPHA:444077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242
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 Pik3c2g

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 Pik3c2g.

No publications found that use IMPC mice or data for Pik3c2g.

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MGI Allele Allele Type Produced
Pik3c2gtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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