Rare diseases · Sign or symptom
Hepatic steatosis
Fatty infiltration of liver
HP:0001397
What it means
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes.
Rare diseases that can present with this68
Very common80–99%
12- AKT2-related familial partial lipodystrophy
- Atypical Werner syndrome
- CIDEC-related familial partial lipodystrophy
- Citrullinemia type II
- DDOST-CDG
- GRACILE syndrome
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- LIPE-related familial partial lipodystrophy
- Microcephalic primordial dwarfism-insulin resistance syndrome
- Progeria-short stature-pigmented nevi syndrome
- Wilson disease
Common30–79%
24- Acquired generalized lipodystrophy
- Acyl-CoA dehydrogenase 9 deficiency
- Adrenomyodystrophy
- Aromatase deficiency
- Autosomal semi-dominant severe lipodystrophic laminopathy
- Congenital bile acid synthesis defect type 2
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Dysbetalipoproteinemia
- Familial chylomicronemia syndrome
- Familial partial lipodystrophy, Köbberling type
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Growth delay-intellectual disability-hepatopathy syndrome
- Homozygous familial hypercholesterolemia
- Idiopathic copper-associated cirrhosis
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Neonatal intrahepatic cholestasis due to citrin deficiency
- Neutral lipid storage disease with ichthyosis
- Neutral lipid storage disease with myopathy
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Wiedemann-Rautenstrauch syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Fatty liver · Liver steatosis · Steatosis
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.