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 specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.
Super Class
steatotic liver disease
Disease Ontology
DOID:0080208
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
10891 PPARGC1A PPARG coactivator 1 alpha
25813 SAMM50 SAMM50 sorting and assembly machinery component
80339 PNPLA3 patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase
84649 DGAT2 diacylglycerol O-acyltransferase 2
729230 CCR2 C-C motif chemokine receptor 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
16846 Lep leptin
16847 Lepr leptin receptor
116939 Pnpla3 patatin-like phospholipase domain containing 3
214597 Sidt2 SID1 transmembrane family, member 2
Displaying all 7 entries
Gene ID Gene Symbol Description Source
24539 Lpl lipoprotein lipase
29393 Col1a1 collagen type I alpha 1 chain
54315 Ucp2 uncoupling protein 2
65262 Atp5f1a ATP synthase F1 subunit alpha
81822 Actb actin, beta
83516 Ppargc1a PPARG coactivator 1 alpha
83619 Nfe2l2 NFE2 like bZIP transcription factor 2
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025