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
Disease Ontology
DOID:0080208
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 41 - 50 of 88 in total
Gene ID Gene Symbol Description Source
5054 SERPINE1 serpin family E member 1
5243 ABCB1 ATP binding cassette subfamily B member 1
5313 PKLR pyruvate kinase L/R
5346 PLIN1 perilipin 1
5445 PON2 paraoxonase 2
5919 RARRES2 retinoic acid receptor responder 2
6319 SCD stearoyl-CoA desaturase
6347 CCL2 C-C motif chemokine ligand 2
6352 CCL5 C-C motif chemokine ligand 5
6648 SOD2 superoxide dismutase 2
Displaying entries 1 - 10 of 80 in total
Gene ID Gene Symbol Description Source
11364 Acadm acyl-Coenzyme A dehydrogenase, medium chain
11370 Acadvl acyl-Coenzyme A dehydrogenase, very long chain
11450 Adipoq adiponectin, C1Q and collagen domain containing
11461 Actb actin, beta
11520 Plin2 perilipin 2
11556 Adrb3 adrenergic receptor, beta 3
11615 Ahcyl adenosylhomocysteinase like
11651 Akt1 thymoma viral proto-oncogene 1
11669 Aldh2 aldehyde dehydrogenase 2, mitochondrial
11946 Atp5f1a ATP synthase F1 subunit alpha
Displaying entries 1 - 10 of 45 in total
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
Displaying entries 1 - 10 of 11 in total
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
Displaying all 4 entries
Gene ID Gene Symbol Description Source
406207 mttp microsomal triglyceride transfer protein
447803 pon1 paraoxonase 1
565316 dgat2 diacylglycerol O-acyltransferase 2
768121 foxo1a forkhead box O1 a
Displaying all 4 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)
399170 akt1.S AKT serine/threonine kinase 1 S homeolog Xenopus laevis (African clawed frog)
448598 pon2 paraoxonase 2 Xenopus tropicalis (tropical clawed frog)
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
181125 chup-1 Cholesterol uptake protein 1
181326 pgp-3 Multidrug resistance protein pgp-3
187297 poml-1 PON (paraoxonase) and MEC-6 Like
Displaying entries 1 - 10 of 14 in total
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

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