Traits

Traits linked to SLCO2A1

solute carrier organic anion transporter family member 2A1

The Human Phenotype Ontology links 55 traits to SLCO2A1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Knee pain	Always
Periosteal thickening of long tubular bones	Always
Abnormal cortical bone morphology	Very often (80–99%)
Abnormal shape of end part of bone	Very often (80–99%)
Bone pain	Very often (80–99%)
Arthritis	Often (30–79%)
Breakdown of bone	Often (30–79%)
Limitation of joint mobility	Often (30–79%)
Periostosis	Often (30–79%)
Death of bone due to decreased blood supply	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Bone overgrowth	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Secretory diarrhea	Always
Diarrhea	Often (30–79%)
Nausea	Often (30–79%)
Enlarged liver	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)
Sore in the lining of gastrointestinal tract	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Thickened skin	Always
Excessive sweating	Very often (80–99%)
Abnormal fingernails	Often (30–79%)
Abnormal hair quantity	Often (30–79%)
Abnormal hair pattern	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Very often (80–99%)
Clubbed toes	Often (30–79%)
Outward bow-leggedness	Sometimes (5–29%)
Small hand	Sometimes (5–29%)
Thickening of palms and soles	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bone marrow disease	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Myelofibrosis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Often (30–79%)
Furrows in thickened skin on top of scalp	Often (30–79%)
High, narrow palate	Often (30–79%)
Long eyelashes	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Acne	Always
Seborrheic dermatitis	Always
Bone infection	Very often (80–99%)
Eczema	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated urinary prostaglandin E2 level	Always
Fluid retention	Often (30–79%)
Joint swelling	Often (30–79%)
Low albumin	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating insulin-like growth factor 1 concentration	Often (30–79%)
Growth hormone excess	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Cerebral palsy	Sometimes (5–29%)
Impaired temperature sensation	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Lung cancer	Sometimes (5–29%)

Constitutional symptom

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

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 SLCO2A1 and how often each is seen. Find out more at hpo.jax.org.

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