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Gene: Acacb MGI:2140940

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... ORPHA:71529
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Decreased adiponectin lev... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increa... ORPHA:79085
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Loss... OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... ORPHA:276556
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hyperbilirubinemia, Decreased resp... OMIM:609734
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:145750
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Loss of gluteal subcutan... ORPHA:435651
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Spa... ORPHA:2457
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Hypertrichosis,... ORPHA:528
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... ORPHA:75234
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity OMIM:614962
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hyperin... OMIM:151660
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Diabetes mellitus, Hyper... OMIM:222100
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami... OMIM:615381
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Fine hair, Diabetes ... ORPHA:181393
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Temple Syndrome
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... ORPHA:254516
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... OMIM:614963
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age OMIM:248100
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Insulin resistance,... ORPHA:79083
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Lipoatrophy, Pancreatitis, Cellulitis, Hepatomegaly, Splenomegaly, Hypertr... ORPHA:2348
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... ORPHA:369
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... ORPHA:2088
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Secondary Short Bowel Syndrome
Failure to thrive, Steatorrhea, Low plasma citrulline, Cholestasis, Abnormal blood ion concentrat... ORPHA:95427
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... OMIM:300635
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... ORPHA:280365
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulation test, Hypergona... OMIM:606407
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Hypopigmentation of hair, Obesity ORPHA:177910
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... OMIM:613327
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:232400
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... ORPHA:370
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... OMIM:275000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbu... OMIM:619013
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Hepatosplenomegaly, Acute pancreatitis,... ORPHA:444490
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Elevated circula... ORPHA:264580
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia OMIM:615986
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Elevated circ... ORPHA:79240
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Huntington Disease
Decreased body mass index, Polyphagia, Abnormal circulating cholesterol concentration, Weight los... ORPHA:399
Schaaf-Yang Syndrome
Thick eyebrow, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex congenita... OMIM:615547
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... OMIM:617575
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly, Panniculitis OMIM:618398
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia, Hypopigmentation of hair ORPHA:411515
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
6Q16 Microdeletion Syndrome
Obesity, Polyphagia, Thick eyebrow ORPHA:171829
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98855
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... ORPHA:2298
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Graves disease, Hepatomegaly, Splenomegaly, Increased circulating ... ORPHA:525731
Hyperlipoproteinemia, Type Id
Failure to thrive, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL ... OMIM:615947
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodys... OMIM:617591
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypertriglyceridemia, Synophrys, Hypercholesterolemia, Increase... OMIM:182290
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98863
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:261
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... ORPHA:1414
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
Cebalid Syndrome
Polyphagia, Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia OMIM:618774
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy ORPHA:31
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... OMIM:267700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Man1B1-Cdg
Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Polyphagia, Long eyelashes, Lon... ORPHA:397941
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Glucocorticoid Deficiency 1
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... OMIM:202200
Pick Disease Of Brain
Polyphagia OMIM:172700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Prader-Willi-Like Syndrome
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... ORPHA:398073
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity, Cutaneous leiomyosarcoma, Uterine leiomyosarcoma OMIM:150800
Werner Syndrome
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... OMIM:277700
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398079
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Frontotemporal Dementia
Polyphagia OMIM:600274
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Flexion contracture, Alopecia... OMIM:608612
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Primary Lipodystrophy
Hyperlipidemia, Lipoatrophy, Pancreatitis, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Li... ORPHA:90970
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
2Q23.1 Microdeletion Syndrome
Generalized hirsutism, Polyphagia, Highly arched eyebrow, Synophrys ORPHA:228402
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Sparse scalp hair, Failure to thrive, S... OMIM:606721
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Alopecia, Abnormal circulating creatine kinase concentratio... ORPHA:98907
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Adrenocorticotropic hormone deficiency, Decreased response to growth ... ORPHA:293987
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Flexion cont... ORPHA:398069
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:603553
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189439
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... ORPHA:739
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair ORPHA:79476
H Syndrome
Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Hepatosplenomegaly, Camptodactyly, Hypertr... ORPHA:168569
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Synophrys, Delayed puberty, Hypercholes... ORPHA:819
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Polyphagia, Delayed puberty, Hypercalcemia, Obesity, Abnormal dent... ORPHA:251004
Lysosomal Acid Lipase Deficiency
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Steatorrhea, Hepat... ORPHA:275761
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... OMIM:248370
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Hypertriglyceridemia, Absent eyel... ORPHA:363618
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concen... ORPHA:261476
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus, Hyp... OMIM:619313
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Trisomy 18P
Polyphagia, Highly arched eyebrow ORPHA:1715
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Mody
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... ORPHA:552
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia ORPHA:156
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholest... ORPHA:633
Luscan-Lumish Syndrome
Hirsutism, Polyphagia, Obesity, High anterior hairline OMIM:616831
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... ORPHA:90041
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Thyroiditis, Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic gly... ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... OMIM:618838
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:79444
Microtriplication 11Q24.1
Hyperlipidemia, Thick eyebrow, Long eyelashes, Synophrys, Obesity ORPHA:289522
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... ORPHA:54595
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hyperammonemia, Small for gestational age, Increased serum pyruvate, El... OMIM:615160
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... ORPHA:98908
Atypical Werner Syndrome
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Hypogonadism, Wh... ORPHA:79474
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Hypon... ORPHA:199296
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... ORPHA:567983
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Oral aversion, Hepatomegaly, Steatorr... ORPHA:470
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating prola... OMIM:300942
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Diabetes mellitus OMIM:229300
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Gangliocytoma
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... ORPHA:251937
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of finger, Elevated circulating C-reactive protein concentrat... OMIM:256040
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... OMIM:212140
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... ORPHA:79443
Angelman Syndrome
Precocious puberty in females, Fair hair, Delayed menarche, Polyphagia, Dysphagia, Obesity ORPHA:72
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Hypothyroidism, Hypoalbuminemia OMIM:256300
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Splenomegaly, Hypopigmentation of hair, Premature graying of hair, ... ORPHA:79477
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:619802
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia OMIM:600955
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Inguinal hernia, Alopecia, Widened atrophic scar, Hypertriglyceridemia, Ventral herni... ORPHA:536532
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia OMIM:610644
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, In... ORPHA:77293
Intellectual Developmental Disorder, Autosomal Dominant 1
Thick eyebrow, Polyphagia, Long eyelashes, Highly arched eyebrow, Low posterior hairline OMIM:156200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Alopecia, Generalized lipodystrophy, Delayed puberty, Nail dy... ORPHA:90154
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Sparse eyebrow, Alopecia, Sparse eyelashes, Hypoketotic hypoglycemia, Increase... OMIM:610768
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Decreased liver function, Elevated circulating creatine kin... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Decreased liver function, Elevated circulating creatine kin... OMIM:618839
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Fine hair, Polyphagia, Sparse hair ORPHA:251028
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketot... ORPHA:26793
Weaver Syndrome
Joint contracture of the hand, Inguinal hernia, Sparse hair, Camptodactyly, Polyphagia, Fine hair... OMIM:277590
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Increased circ... OMIM:131100
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hepatomegaly, Sparse hair, Flexion contracture, Sparse eyebrow, Elevated hem... OMIM:619127
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Sparse axillary hair, Decreased circu... ORPHA:95409
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Polyphagia, Horizontal eyebrow, Long eyelashes,... ORPHA:96121
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Elevated hepa... OMIM:232200
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Atrial septal... ORPHA:769
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hyperproteinemia, Hyper... ORPHA:158048
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity, Polyphagia OMIM:612469
Aromatase Deficiency
Generalized hirsutism, Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Hypergonadot... ORPHA:91
Adnp Syndrome
Sparse scalp hair, Hirsutism, Inguinal hernia, Truncal obesity, Polyphagia, Umbilical hernia, Hig... ORPHA:404448
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine... OMIM:251880
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Nail dystrophy, Hepatosplenomegaly ORPHA:31150
Addison Disease
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... ORPHA:85138
Alagille Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Prolonged neonatal jaundice, Hepatic failur... OMIM:118450
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Intrinsic hand muscle atrophy, Decreased pyruvate carboxylase activity, Diabetic ketoacidosis, Fo... OMIM:302900
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hypoproteinemia, Splenome... ORPHA:167
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Precocious puberty, Hyperlipidemia, Hypothyroidism, Synophrys, Arthrogrypo... ORPHA:254346
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Hepatic failure... OMIM:619573
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, H... ORPHA:228308
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia, Obesity ORPHA:369837
1P36 Deletion Syndrome
Annular pancreas, Abnormal eyebrow morphology, Generalized hirsutism, Failure to thrive, Camptoda... ORPHA:1606
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... ORPHA:64
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... OMIM:614736
Woodhouse-Sakati Syndrome
Hyperlipidemia, Decreased serum testosterone concentration, Sparse hair, Alopecia, Hypergonadotro... OMIM:241080
Rett Syndrome
Failure to thrive, Hyperammonemia, Increased serum pyruvate, Increased serum leptin, Cholecystitis ORPHA:778
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevat... OMIM:617049
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Hyperlipidemia, Flexion contracture, Alopecia, Breast aplasia, Absen... ORPHA:90153
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Sparse scalp hair, Failu... OMIM:264090
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Hirsutism, Increased ci... ORPHA:786
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Impaired oro... ORPHA:404454
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... OMIM:232240
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers ORPHA:255210
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse hair, Increased circulating prolactin concentration, ... ORPHA:3455
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Hepatomegaly, Pancreatitis, Splenomegaly, Elevated circulating creatine kinase co... ORPHA:565612
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased liver function, Splenomegaly, Hepatic fai... ORPHA:2442
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Increased circulating renin lev... 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
Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Elevated hepatic transaminase, Large fo... OMIM:616026
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity OMIM:277400
Friedreich Ataxia 2
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:601992
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Failure to thrive, Lipoatrophy, Flexion contracture, Alopecia, Sparse eyebrow,... OMIM:614008
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Congenital hypothyroidism, Camptodactyly, Hypothyroidism, Polyphagia, Ho... OMIM:607872
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Hyperlipidemia, Pancreatitis, Small for gestational age, Abnormality of thyroi... ORPHA:1830
Friedreich Ataxia And Congenital Glaucoma
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:229310
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Bicuspid aortic valve, Hyperinsulinemia, Type II diabetes mellitus, Atrial s... ORPHA:99413
Turner Syndrome
Glucose intolerance, Bicuspid aortic valve, Hyperinsulinemia, Type II diabetes mellitus, Atrial s... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Bicuspid aortic valve, Hyperinsulinemia, Type II diabetes mellitus, Atrial s... ORPHA:99228
Monosomy X
Glucose intolerance, Bicuspid aortic valve, Hyperinsulinemia, Type II diabetes mellitus, Atrial s... ORPHA:99226
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Patchy alopecia, Severe failure to thrive, Delayed menarche, Pubertal development... ORPHA:740
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia ORPHA:2126
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Liver Disease, Severe Congenital
Hyperinsulinemic hypoglycemia, Atrial septal defect, Ventricular septal defect, Subvalvular aorti... OMIM:619991
Fabry Disease
Diabetes insipidus, Hyperlipidemia, Delayed puberty, Abnormal circulating lipid concentration ORPHA:324
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Pmm2-Cdg
Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonadotropic hypogonadis... 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.

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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

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