Traits

Traits linked to SCARB2

scavenger receptor class B member 2

The Human Phenotype Ontology links 77 traits to SCARB2, by body system: features seen in people with one of the gene's rare conditions.

SCARB2

Abnormality of the nervous system

Trait	How often it is seen
Jerking	Always
EEG with polyspike wave complexes	Very often (80–99%)
Limb ataxia	Very often (80–99%)
Morning myoclonic jerks	Very often (80–99%)
Ataxia	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Intention tremor	Often (30–79%)
Unsteady walk	Often (30–79%)
Dementia	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Nerve damage causing decreased feeling and movement	Sometimes (5–29%)
Pressure on spinal cord	Sometimes (5–29%)
Parkinsonism	Rarely (1–4%)
Action tremor	Not recorded
Degeneration of cerebellum	Not recorded
Generalized-onset seizure	Not recorded
Inability to coordinate movements when walking	Not recorded
Postural tremor	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Normochromic anemia	Always
Abnormality of coagulation	Often (30–79%)
Bleeding gums	Often (30–79%)
Bruising susceptibility	Often (30–79%)
Low blood cell count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Low platelet count	Often (30–79%)
Bleeding tendency	Sometimes (5–29%)
Decreased blood leukocyte number	Sometimes (5–29%)
Multiple myeloma	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Always
High urine protein levels	Always
Low albumin	Always
Decreased beta-glucocerebrosidase level	Very often (80–99%)
Anasarca	Often (30–79%)
Elevated serum ferritin	Often (30–79%)
Fluid around lungs	Often (30–79%)
Blood in urine	Sometimes (5–29%)
Decreased circulating high-density lipoprotein cholesterol	Sometimes (5–29%)
Elevated circulating CCL18 concentration	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Abdominal pain	Often (30–79%)
Poor swallowing	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Biliary tract obstruction	Sometimes (5–29%)
Gallstones	Sometimes (5–29%)
Liver failure	Rarely (1–4%)
Scar tissue replaces healthy tissue in the liver	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone pain	Very often (80–99%)
Breakdown of bone	Very often (80–99%)
Death of bone due to decreased blood supply	Very often (80–99%)
Delayed bone maturation	Very often (80–99%)
Osteopenia	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Compression fracture of a vertebral body	Sometimes (5–29%)
Degenerative joint disease	Sometimes (5–29%)
Spontaneous fracture	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hypersplenism	Very often (80–99%)
Increased spleen size	Very often (80–99%)
Enlarged liver and spleen	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Portal hypertension	Sometimes (5–29%)
Splenic infarction	Sometimes (5–29%)
Splenic rupture	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Always
Renal failure	Always
Focal segmental glomerulosclerosis	Not recorded
Glomerulopathy	Not recorded
Kidney damage	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Short stature	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased antibody level in blood	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Pinguecula	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Erlenmeyer flask shaped thighbone	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Photosensitive skin	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality in area between air sacs in lung	Sometimes (5–29%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SCARB2 and how often each is seen. Find out more at hpo.jax.org.

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