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
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 31 - 32 of 32 in total
Gene ID Gene Symbol Description Source
80339 PNPLA3 patatin like phospholipase domain containing 3
84649 DGAT2 diacylglycerol O-acyltransferase 2
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
11364 Acadm acyl-Coenzyme A dehydrogenase, medium chain
11450 Adipoq adiponectin, C1Q and collagen domain containing
14380 G6pd2 glucose-6-phosphate dehydrogenase 2
14381 G6pdx glucose-6-phosphate dehydrogenase X-linked
16846 Lep leptin
16847 Lepr leptin receptor
19017 Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
21898 Tlr4 toll-like receptor 4
21926 Tnf tumor necrosis factor
22228 Ucp2 uncoupling protein 2 (mitochondrial, proton carrier)
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
24158 Acadm acyl-CoA dehydrogenase medium chain
24377 G6pd glucose-6-phosphate dehydrogenase
24536 Lepr leptin receptor
24651 Pklr pyruvate kinase L/R
24835 Tnf tumor necrosis factor
25608 Lep leptin
29260 Tlr4 toll-like receptor 4
54315 Ucp2 uncoupling protein 2
83516 Ppargc1a PPARG coactivator 1 alpha
252900 Dgat2 diacylglycerol O-acyltransferase 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
31480 Sirt4 Sirtuin 4
32974 Zw Zwischenferment
42620 PyK Pyruvate kinase
43222 Tl Toll
Displaying all 2 entries
Gene ID Gene Symbol Description Source
565316 dgat2 diacylglycerol O-acyltransferase 2
768121 foxo1a forkhead box O1 a
Displaying all 2 entries
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)
Displaying 1 entry
Gene ID Gene Symbol Description Source
178046 gspd-1 Glucose-6-phosphate 1-dehydrogenase
Displaying all 4 entries
Gene ID Gene Symbol Description Source
851193 CDC19 pyruvate kinase CDC19
854419 DGA1 diacylglycerol O-acyltransferase
854529 PYK2 pyruvate kinase PYK2
855480 ZWF1 glucose-6-phosphate dehydrogenase

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Last updated: August 19, 2024