Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
acetyl-Coenzyme A carboxylase beta
Synonyms:
Acc2,  Accb

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 Acacb 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 Acacb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity,... ORPHA:71529
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... OMIM:610947
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Smal... ORPHA:324575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, ... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... OMIM:609734
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... OMIM:610717
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Focal pancreatic islet ... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... ORPHA:276556
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholest... OMIM:604367
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... ORPHA:436182
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... OMIM:616516
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low anterior hairline, Insulin resis... ORPHA:528
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... OMIM:222100
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Hirsutism... OMIM:151660
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Hypertriglyceri... OMIM:615381
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Polyphagia, Recurrent hypoglycemia, Obesity... ORPHA:254516
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hirsutism, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intr... OMIM:608594
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... OMIM:614963
Growth Hormone Insensitivity Syndrome
Fine hair, Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failu... ORPHA:181393
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Hirsutism, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intr... OMIM:269700
Macrosomia Adiposa Congenita
Obesity, Adrenocortical adenoma, Polyphagia, Large for gestational age OMIM:248100
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... ORPHA:2348
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypergonadotropic hypogonadism, Failure to thrive, Long eyelashes, Neonatal hypoglyce... OMIM:606407
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... OMIM:278000
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Decreased... ORPHA:314811
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Hirsutism, Insulin resistance, Elevated circulating creatine kinase conc... OMIM:613327
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic ... ORPHA:369
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Polyphagia, Large for gestational age OMIM:617119
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism, Steat... ORPHA:95427
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... ORPHA:280365
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Polyphagia ORPHA:177910
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, El... OMIM:619013
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated cir... ORPHA:264580
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,... ORPHA:444490
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... ORPHA:79240
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism, Thick... OMIM:615547
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... ORPHA:2089
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty OMIM:616033
Huntington Disease
Abnormal circulating cholesterol concentration, Polyphagia, Decreased body mass index, Choking ep... ORPHA:399
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Hypertriglyceridemia, Hypothyroidism, Hypoalbu... OMIM:617575
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Graves Disease, Susceptibility To, 1
Weight loss, Goiter, Graves disease, Polyphagia OMIM:275000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia, Splenomegaly OMIM:618398
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Hypopigmentation of hair, Polyphagia ORPHA:411515
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
6Q16 Microdeletion Syndrome
Obesity, Thick eyebrow, Polyphagia ORPHA:171829
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98855
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Polydipsia, Polyphagia, Failure to thrive, Goiter, ... ORPHA:525731
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Abnormality of body weight, ... ORPHA:2298
Renal Glucosuria
Polyphagia, Glycosuria, Polydipsia OMIM:233100
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... ORPHA:99886
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Panniculitis, Lipodystrophy, Splenomegaly, Hypertriglyceridemia,... OMIM:617591
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weig... OMIM:182290
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:261
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Polyphagia,... ORPHA:300373
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:98793
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Multiple lipomas, Spleno... ORPHA:1414
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... OMIM:267700
Oxoglutaric Aciduria
Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism ORPHA:31
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:177901
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Man1B1-Cdg
Polyphagia, Long eyelashes, Sparse eyebrow, Truncal obesity, Abnormal position of hair whorl, Lon... ORPHA:397941
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Pick Disease Of Brain
Polyphagia OMIM:172700
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... ORPHA:158061
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:398073
Frontotemporal Dementia
Polyphagia OMIM:600274
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Decreased fumarate hydratase activity, Cutaneous leiomyosarcoma OMIM:150800
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abn... ORPHA:71212
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Premature adren... ORPHA:398079
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Increased circulating ACTH level, Failure to thrive, Decreased circulatin... OMIM:202200
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... ORPHA:90970
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Central hypothyroidism, Polydipsia, Polyphagia, Hyperglycemia, Hyperlipidemia, Prem... ORPHA:293987
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Generalized hirsutism, Polyphagia, Synophrys ORPHA:228402
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... OMIM:617156
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Alopecia, Micronodular cirrhosi... ORPHA:98907
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Spleno... OMIM:603553
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... OMIM:619418
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Failure to thrive, Premature a... ORPHA:739
Prader-Willi Syndrome
Failure to thrive in infancy, Adrenal insufficiency, Type II diabetes mellitus, Polyphagia, Hypog... OMIM:176270
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Hirsutism, Type II diabetes mellitus, Hype... ORPHA:189439
H Syndrome
Hypertrichosis, Alopecia, Lipodystrophy, Hernia, Abnormal eyebrow morphology, Hypogonadism, Hepat... ORPHA:168569
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Absence of pube... ORPHA:398069
Griscelli Syndrome Type 1
White hair, Premature graying of hair, Hyperlipidemia ORPHA:79476
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Polyphagia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Obes... ORPHA:251004
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Polyphagia, Pituitary adenoma, Hypopituitarism, Ele... OMIM:300942
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Decreased liver function, Cholestatic liver disease, Increased circul... ORPHA:540
Smith-Magenis Syndrome
Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Obesity... ORPHA:819
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Cachexia, Hepatic fibrosis, Failure... ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Absent eyebrow, Absent eyelashes, Hypercholesterolemia... ORPHA:363618
Xp21 Deletion Syndrome
Adrenal insufficiency, Elevated circulating creatine kinase concentration, Hypogonadotropic hypog... ORPHA:261476
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenal hypoplasia, Cholestasis, Adre... OMIM:201400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, Hypertriglyceridemia, Hyp... OMIM:619313
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Trisomy 18P
Highly arched eyebrow, Polyphagia ORPHA:1715
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia ORPHA:156
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Luscan-Lumish Syndrome
High anterior hairline, Obesity, Hirsutism, Polyphagia OMIM:616831
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed... ORPHA:633
Gaisböck Syndrome
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Overweight, Hypertriglyceridemia,... ORPHA:90041
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... ORPHA:79444
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circulating cortisol ... OMIM:618838
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatocellular ca... ORPHA:79259
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H... ORPHA:54595
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Hyperalaninemia, Decreased liver function, Hyperammonemi... OMIM:615160
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient... ORPHA:199296
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... ORPHA:470
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:199276
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... ORPHA:567983
Neutral Lipid Storage Myopathy
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Hepatic steatosis,... ORPHA:98908
Microtriplication 11Q24.1
Hyperlipidemia, Long eyelashes, Thick eyebrow, Obesity, Synophrys ORPHA:289522
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Gangliocytoma
Abnormal prolactin level, Polyphagia, Abnormality of the pituitary gland, Pituitary prolactin cel... ORPHA:251937
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Thick eyebrow, Polyphagia OMIM:156200
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... ORPHA:79443
Proteasome-Associated Autoinflammatory Syndrome 1
Adipose tissue loss, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentration... OMIM:256040
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Atypical Werner Syndrome
Abnormal hair morphology, Insulin-resistant diabetes mellitus, White forelock, Fasting hyperinsul... ORPHA:79474
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Hyperammonemia... OMIM:212140
Griscelli Syndrome Type 2
Hepatomegaly, Hyperlipidemia, Splenomegaly, Hypopigmentation of hair, Premature graying of hair, ... ORPHA:79477
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Diabetes mellitus OMIM:229300
Angelman Syndrome
Dysphagia, Precocious puberty in females, Polyphagia, Obesity, Delayed menarche, Fair hair ORPHA:72
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Nail dystrophy, Hypertriglyceridemia OMIM:610644
Classical-Like Ehlers-Danlos Syndrome Type 2
Umbilical hernia, Alopecia, Inguinal hernia, Hypertriglyceridemia, Diabetes mellitus, Ventral her... ORPHA:536532
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor... ORPHA:77293
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Precocious puberty, Pancreatic islet-cell hyperplasia, Postp... OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Nail dystrophy, Alopeci... ORPHA:90154
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism, Hypocalcemia OMIM:618183
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Elevated circulating creatine kinase concentration, Decre... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Elevated circulating creatine kinase concentration, Decre... OMIM:618839
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Fine hair, Sparse hair, Polyphagia ORPHA:251028
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Adrenocortical adenoma, Hypoglycemia, Increased circulating cortisol level, Insuli... OMIM:131100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circ... ORPHA:26793
7Q11.23 Microduplication Syndrome
Polyphagia, Congenital diaphragmatic hernia, Long eyelashes, Horizontal eyebrow, Sparse anterior ... ORPHA:96121
Acute Adrenal Insufficiency
Hyperkalemia, Hyponatremia, Hypercalcemia, Androgen insufficiency, Hypoglycemia, Decreased circul... ORPHA:95409
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Splenomegaly, Increased circulating ferritin concentration, Hyper... ORPHA:158048
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Ventricular septal defect, Insulin resi... ORPHA:769
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Nail dystrophy, Glucose intolerance, Sparse eyebrow, Generalized lipodystrophy, Mac... OMIM:619127
Wiedemann-Rautenstrauch Syndrome
Broad eyebrow, Dysphagia, Sparse eyelashes, Increased serum testosterone level, Failure to thrive... OMIM:264090
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... ORPHA:157
Alagille Syndrome 1
Hepatocellular carcinoma, Elevated hepatic transaminase, Failure to thrive, Papillary thyroid car... OMIM:118450
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Eunuchoid habitus, Hepatic steatos... ORPHA:91
Adnp Syndrome
Hirsutism, High anterior hairline, Polyphagia, Inguinal hernia, Truncal obesity, Oral-pharyngeal ... ORPHA:404448
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Hypertriglyceridemia ORPHA:31150
Addison Disease
Androgen insufficiency, Hypoglycemia, Adrenal hypoplasia, Type I diabetes mellitus, Increased cir... ORPHA:85138
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin syst... ORPHA:90790
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia... OMIM:232200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Failure to thrive, Depletion of mitochondria... OMIM:251880
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypokalemia, Small for gestational age, Hepatic steatosis, Elevated circulating ala... OMIM:619573
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Splenomegaly, Decreased liver function, Increased circulating ferr... ORPHA:167
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, He... ORPHA:199299
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia... OMIM:232220
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypoparathyroidism, Hypertriglyceridemia, Obesity, Precocious puberty ORPHA:369837
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Weakness of the intrinsic hand muscles, Diabetic ketoacidosis, Tibialis muscle weakness, Intrinsi... OMIM:302900
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Generalized hirsutism, Hyp... ORPHA:254346
Alström Syndrome
Hirsutism, Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating horm... ORPHA:64
1P36 Deletion Syndrome
Abnormality of the spleen, Dysphagia, Polyphagia, Annular pancreas, Failure to thrive, Abnormal e... ORPHA:1606
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... ORPHA:228308
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Precociou... OMIM:614736
Woodhouse-Sakati Syndrome
Fine hair, Decreased serum insulin-like growth factor 1, Hyperlipidemia, Hypogonadotropic hypogon... OMIM:241080
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Insulin resistance, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Flex... ORPHA:90153
Rett Syndrome
Failure to thrive, Hyperammonemia, Increased serum leptin, Cholecystitis, Increased serum pyruvate ORPHA:778
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... ORPHA:786
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminot... OMIM:617049
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oral bolus formation, Hepatomegaly, Microvesicular hepatic steatosis, Limb joint contrac... ORPHA:404454
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Sheehan Syndrome
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Hashimoto thyroiditis, Abnormal size o... ORPHA:91355
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Hepatoblastoma, Hyperuricem... OMIM:232240
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Hirsutism, Slender build, Lipoatrophy, Camptodactyly of finge... ORPHA:3455
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Abnormality of Krebs cycle metabolism ORPHA:255210
Woodhouse-Sakati Syndrome
Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Decreased response to growth h... ORPHA:3464
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Pancreatitis, S... ORPHA:565612
X-Linked Lymphoproliferative Disease
Hepatic necrosis, Fulminant hepatitis, Splenomegaly, Decreased liver function, Increased circulat... ORPHA:2442
Leprechaunism
Hypertrophic cardiomyopathy, Central hypothyroidism, Fasting hypoglycemia, Insulin resistance, Re... ORPHA:508
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity OMIM:277400
Nestor-Guillermo Progeria Syndrome
Sparse eyelashes, Failure to thrive, Nail dystrophy, Alopecia, Sparse scalp hair, Lipoatrophy, De... OMIM:614008
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Hyperlipidemia, Failure to thrive, Abnormality of thyroid physiology, ... ORPHA:1830
Friedreich Ataxia 2
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:601992
Chromosome 1P36 Deletion Syndrome, Distal
Dysphagia, Congenital hypothyroidism, Abnormality of the hairline, Polyphagia, Horizontal eyebrow... OMIM:607872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Friedreich Ataxia And Congenital Glaucoma
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:229310
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Dilated cardiomyopathy, Insulin resistance, ... ORPHA:273
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Failure to thrive, Hypertyrosinemia, Spleno... OMIM:276700
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin ... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin ... ORPHA:881
Monosomy X
Bicuspid aortic valve, Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin ... ORPHA:99226
Mosaic Monosomy X
Bicuspid aortic valve, Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin ... ORPHA:99228
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Dystrophic toenail, Insulin resistance, Absence of subcutaneous fat, Alop... ORPHA:740
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia ORPHA:2126
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Fabry Disease
Abnormal circulating lipid concentration, Diabetes insipidus, Delayed puberty, Hyperlipidemia ORPHA:324
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Pmm2-Cdg
Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, Insulin resistance, Hypogonadotr... ORPHA:79318
Leukocyte Adhesion Deficiency
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 Acacb

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 Acacb.

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

Order Mouse and ES Cells

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

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

MGI Allele Allele Type Produced
Acacbtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Acacbtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter