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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

TraitHvor ofte det ses
Knee painAltid
Periosteal thickening of long tubular bonesAltid
Abnormal cortical bone morphologyMeget ofte (80–99 %)
Abnormal shape of end part of boneMeget ofte (80–99 %)
Bone painMeget ofte (80–99 %)
ArthritisOfte (30–79 %)
Breakdown of boneOfte (30–79 %)
Limitation of joint mobilityOfte (30–79 %)
PeriostosisOfte (30–79 %)
Death of bone due to decreased blood supplyNogle gange (5–29 %)
OsteoporosisNogle gange (5–29 %)
ScoliosisNogle gange (5–29 %)
Bone overgrowthIkke registreret

Abnormality of the digestive system

TraitHvor ofte det ses
Secretory diarrheaAltid
DiarrheaOfte (30–79 %)
NauseaOfte (30–79 %)
Enlarged liverNogle gange (5–29 %)
MalabsorptionNogle gange (5–29 %)
Sore in the lining of gastrointestinal tractNogle gange (5–29 %)

Abnormality of the integument

TraitHvor ofte det ses
Thickened skinAltid
Excessive sweatingMeget ofte (80–99 %)
Abnormal fingernailsOfte (30–79 %)
Abnormal hair quantityOfte (30–79 %)
Abnormal hair patternNogle gange (5–29 %)
Skin cancerNogle gange (5–29 %)

Abnormality of limbs

TraitHvor ofte det ses
Clubbing of fingers and toesMeget ofte (80–99 %)
Clubbed toesOfte (30–79 %)
Outward bow-leggednessNogle gange (5–29 %)
Small handNogle gange (5–29 %)
Thickening of palms and solesNogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Bone marrow diseaseNogle gange (5–29 %)
Gastrointestinal bleedingNogle gange (5–29 %)
Low number of red blood cells or hemoglobinNogle gange (5–29 %)
MyelofibrosisNogle gange (5–29 %)

Abnormality of head or neck

TraitHvor ofte det ses
Coarse facial featuresOfte (30–79 %)
Furrows in thickened skin on top of scalpOfte (30–79 %)
High, narrow palateOfte (30–79 %)
Long eyelashesOfte (30–79 %)

Abnormality of the immune system

TraitHvor ofte det ses
AcneAltid
Seborrheic dermatitisAltid
Bone infectionMeget ofte (80–99 %)
EczemaNogle gange (5–29 %)

Laboratory abnormality

TraitHvor ofte det ses
Elevated urinary prostaglandin E2 levelAltid
Fluid retentionOfte (30–79 %)
Joint swellingOfte (30–79 %)
Low albuminOfte (30–79 %)

Abnormality of the endocrine system

TraitHvor ofte det ses
Decreased circulating insulin-like growth factor 1 concentrationOfte (30–79 %)
Growth hormone excessNogle gange (5–29 %)

Abnormality of the nervous system

TraitHvor ofte det ses
Cerebral palsyNogle gange (5–29 %)
Impaired temperature sensationNogle gange (5–29 %)

Abnormality of the breast

TraitHvor ofte det ses
Enlarged male breastNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Increased spleen sizeNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Drooping upper eyelidOfte (30–79 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Lung cancerNogle gange (5–29 %)

Constitutional symptom

TraitHvor ofte det ses
Joint painOfte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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