Traits

Traits linked to SLC19A1

solute carrier family 19 member 1

The Human Phenotype Ontology links 37 traits to SLC19A1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood lymphocyte number	Always
Episodic hemolytic anemia	Always
Erythroid dysplasia	Always
Folate-responsive megaloblastic anemia	Always
Hypersegmentation of neutrophil nuclei	Always
Hypofibrinogenemia	Always
Low platelet count	Always
Megaloblastic anemia	Always
Megaloblastic bone marrow	Always
Schistocytosis	Always

Laboratory abnormality

Trait	How often it is seen
Elevated blood homocystine	Always
Elevated serum ferritin	Always
Episodic fever	Always
High blood bilirubin levels	Always
Increased circulating lactate dehydrogenase concentration	Always
Increased plasma triglycerides	Always
Vitamin B12 deficiency	Always

Abnormality of the nervous system

Trait	How often it is seen
Delayed CNS myelination	Always
Degeneration of cerebellum	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Global developmental delay	Often (30–79%)
Epilepsy	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Always
Recurrent chest infections	Always
Baby eczema	Often (30–79%)
Food allergy	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Canker sore	Always
Lip fissure	Always
Dental cavities	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgG concentration	Always
Increased circulating IgE concentration	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Enlarged liver	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Open skin sore	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal deposits of calcium in the brain	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	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 SLC19A1 and how often each is seen. Find out more at hpo.jax.org.

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