Rare diseases · Sign or symptom
Hypercholesterolemia
Elevated serum cholesterol
HP:0003124
What it means
An increased concentration of cholesterol in the blood.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this35
Very common80–99%
5Common30–79%
14- 9q31.1q31.3microdeletion syndrome
- Cholesteryl ester storage disease
- COG4-CDG
- Congenital analbuminemia
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Glycogen storage disease due to liver phosphorylase kinase deficiency
- Idiopathic steroid-resistant nephrotic syndrome
- Isolated thyroid-stimulating hormone deficiency
- Lysinuric protein intolerance
- Mandibuloacral dysplasia
- Primary biliary cholangitis
- Sitosterolemia
- Smith-Magenis syndrome
- Spinocerebellar ataxia with axonal neuropathy type 1
Sometimes5–29%
14- Acquired aneurysmal subarachnoid hemorrhage
- Citrullinemia type II
- Congenital generalized lipodystrophy
- Distal myopathy, Tateyama type
- Laron syndrome
- Low phospholipid-associated cholelithiasis
- Megalocornea-intellectual disability syndrome
- Morgagni-Stewart-Morel syndrome
and 6 more in this range
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: Elevated total cholesterol · High cholesterol · Increased total cholesterol
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.