Trait

Decreased circulating cholesterol level

Clinical name: Hypocholesterolemia

An decreased concentration of cholesterol in the blood.

HPO HP:0003146

Body system: Laboratory abnormality

This page as data

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page <- fromJSON(url)
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20 genes linked to Decreased circulating cholesterol level

Changes in these genes cause rare conditions in which Decreased circulating cholesterol level is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
ALG9ALG9 alpha-1,2-mannosyltransferase	Always	In 1 condition
APOBapolipoprotein B	Always	In 1 condition
ATAD3AATPase family AAA domain containing 3A	Always	In 1 condition
FDFT1farnesyl-diphosphate farnesyltransferase 1	Always	In 1 condition
MSMO1methylsterol monooxygenase 1	Always	In 1 condition
PNLIPpancreatic lipase	Always	In 1 condition
SAR1Bsecretion associated Ras related GTPase 1B	Always	In 2 conditions
ABCA1ATP binding cassette subfamily A member 1	Very often (80–99%)	In 1 condition
DHCR77-dehydrocholesterol reductase	Often (30–79%)	In 1 condition
MTTPmicrosomal triglyceride transfer protein	Often (30–79%)	In 1 condition
PSAPprosaposin	Often (30–79%)	In 1 condition
TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase	Often (30–79%)	In 1 condition
UBE3Bubiquitin protein ligase E3B	Often (30–79%)	In 1 condition
ALG12ALG12 alpha-1,6-mannosyltransferase	Sometimes (5–29%)	In 1 condition
SERAC1serine active site containing 1	Sometimes (5–29%)	In 1 condition
FLCNfolliculin	Not recorded	In 1 condition
HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	Not recorded	In 1 condition
PEX12peroxisomal biogenesis factor 12	Not recorded	In 1 condition
PMM2phosphomannomutase 2	Not recorded	In 1 condition
RAI1retinoic acid induced 1	Not recorded	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormality of cholesterol metabolism

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.17-8666dff2.

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