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 1 - 10 of 88 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
32 ACACB acetyl-CoA carboxylase beta
34 ACADM acyl-CoA dehydrogenase medium chain
37 ACADVL acyl-CoA dehydrogenase very long chain
48 ACO1 aconitase 1
60 ACTB actin beta
123 PLIN2 perilipin 2
155 ADRB3 adrenoceptor beta 3
191 AHCY adenosylhomocysteinase
207 AKT1 AKT serine/threonine kinase 1
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 41 - 45 of 45 in total
Gene ID Gene Symbol Description Source
296851 Pon2 paraoxonase 2
297508 Nampt nicotinamide phosphoribosyltransferase
298210 Ifna5 interferon, alpha 5
300111 Samm50 SAMM50 sorting and assembly machinery component
315617 Sidt2 SID1 transmembrane family, member 2
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
43222 Tl Toll
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 1 - 10 of 13 in total
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
Displaying entries 11 - 14 of 14 in total
Gene ID Gene Symbol Description Source
855247 HFA1 acetyl-CoA carboxylase HFA1
855480 ZWF1 glucose-6-phosphate dehydrogenase
855927 TRE1 Tre1p
856014 GLR1 glutathione-disulfide reductase GLR1

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