Traits

Traits linked to SLC19A2

solute carrier family 19 member 2

The Human Phenotype Ontology links 36 traits to SLC19A2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
All organs on wrong side of body	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Paroxysmal atrial tachycardia	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Abnormal heart rate	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Often (30–79%)
Breakdown of light-sensitive cells in back of eye	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Cone/cone-rod dystrophy	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded
Retina degeneration	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Headache	Very often (80–99%)
Lethargy	Very often (80–99%)
Pins and needles feeling	Very often (80–99%)
Ataxia	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thiamine-responsive megaloblastic anemia	Always
Megaloblastic anemia	Very often (80–99%)
Low platelet count	Often (30–79%)
Sideroblastic anemia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Very often (80–99%)
Diarrhea	Very often (80–99%)
Acid reflux	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Paleness	Very often (80–99%)
Abnormality of the skin	Not recorded

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
Abnormal urinary amino-acid findings	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	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 SLC19A2 and how often each is seen. Find out more at hpo.jax.org.

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