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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
metabolic dysfunction-associated steatotic liver disease
Summary
- Synonym
-
- MAFLD
- MASLD
- NAFLD
- metabolic dysfunction-associated fatty liver disease
- metabolic dysfunction-related steatotic liver disease
- metabolic-associated fatty liver disease
- non-alcoholic fatty liver disease
- nonalcoholic fatty liver disease
- Definition
- A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are: (1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents. (2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only). (3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment. (4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment. (5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment.
- Super Class
- steatotic liver disease
External Links
- Disease Ontology
- DOID:0080208
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6720 | SREBF1 | sterol regulatory element binding transcription factor 1 | |
| 6774 | STAT3 | signal transducer and activator of transcription 3 | |
| 7037 | TFRC | transferrin receptor | |
| 7038 | TG | thyroglobulin | |
| 7099 | TLR4 | toll like receptor 4 | |
| 7124 | TNF | tumor necrosis factor | |
| 7351 | UCP2 | uncoupling protein 2 | |
| 7941 | PLA2G7 | phospholipase A2 group VII | |
| 8660 | IRS2 | insulin receptor substrate 2 | |
| 8714 | ABCC3 | ATP binding cassette subfamily C member 3 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 20656 | Sod2 | superoxide dismutase 2, mitochondrial | |
| 20787 | Srebf1 | sterol regulatory element binding transcription factor 1 | |
| 20848 | Stat3 | signal transducer and activator of transcription 3 | |
| 21819 | Tg | thyroglobulin | |
| 21898 | Tlr4 | toll-like receptor 4 | |
| 21926 | Tnf | tumor necrosis factor | |
| 22042 | Tfrc | transferrin receptor | |
| 22228 | Ucp2 | uncoupling protein 2 (mitochondrial, proton carrier) | |
| 26383 | Fto | FTO alpha-ketoglutarate dependent dioxygenase | |
| 27226 | Pla2g7 | phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24158 | Acadm | acyl-CoA dehydrogenase medium chain | |
| 24185 | Akt1 | AKT serine/threonine kinase 1 | |
| 24377 | G6pd | glucose-6-phosphate dehydrogenase | |
| 24464 | Hp | haptoglobin | |
| 24536 | Lepr | leptin receptor | |
| 24539 | Lpl | lipoprotein lipase | |
| 24617 | Serpine1 | serpin family E member 1 | |
| 24651 | Pklr | pyruvate kinase L/R | |
| 24770 | Ccl2 | C-C motif chemokine ligand 2 | |
| 24787 | Sod2 | superoxide dismutase 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31480 | Sirt4 | Sirtuin 4 | |
| 32974 | Zw | Zwischenferment | |
| 35362 | Mtp | Microsomal triacylglycerol transfer protein | |
| 36428 | Mdr49 | Multi drug resistance 49 | |
| 38726 | Mdr65 | Multi drug resistance 65 | |
| 41549 | Octbeta2R | Octopamine beta2 receptor | |
| 42549 | InR | Insulin-like receptor | |
| 42620 | PyK | Pyruvate kinase | |
| 42652 | Octbeta1R | Octopamine beta1 receptor | |
| 42803 | Hmgcr | HMG Coenzyme A reductase |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 395003 | dgat2 | diacylglycerol O-acyltransferase 2 | Xenopus tropicalis (tropical clawed frog) | |
| 398800 | dgat2.L | diacylglycerol O-acyltransferase 2 L homeolog | Xenopus laevis (African clawed frog) | |
| 399170 | akt1.S | AKT serine/threonine kinase 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 448598 | pon2 | paraoxonase 2 | Xenopus tropicalis (tropical clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 171999 | poml-2 | Arylesterase | |
| 175410 | daf-2 | Insulin-like receptor subunit beta;Protein kinase domain-containing protein;receptor protein-tyrosine kinase | |
| 176852 | dsc-4 | Microsomal triglyceride transfer protein homolog | |
| 177343 | skn-1 | BZIP domain-containing protein;Protein skinhead-1 | |
| 178046 | gspd-1 | Glucose-6-phosphate 1-dehydrogenase | |
| 178215 | pgp-1 | Multidrug resistance protein pgp-1 | |
| 178672 | srp-3 | Serpin domain-containing protein | |
| 180289 | mrp-7 | Multidrug resistance protein mrp-7 | |
| 180408 | mrp-2 | Multidrug resistance-associated protein 1 | |
| 180409 | mrp-1 | Multidrug resistance-associated protein 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 851171 | HMG2 | hydroxymethylglutaryl-CoA reductase (NADPH) HMG2 | |
| 851193 | CDC19 | pyruvate kinase CDC19 | |
| 852803 | HNM1 | Hnm1p | |
| 853590 | VPS70 | putative zinc metalloprotease | |
| 853671 | STE6 | ATP-binding cassette a-factor transporter STE6 | |
| 854080 | YOL075C | uncharacterized protein | |
| 854419 | DGA1 | diacylglycerol O-acyltransferase | |
| 854430 | TRE2 | putative zinc metalloprotease | |
| 854529 | PYK2 | pyruvate kinase PYK2 | |
| 854900 | HMG1 | hydroxymethylglutaryl-CoA reductase (NADPH) HMG1 |
