Traits

Traits linked to VPS45

vacuolar protein sorting 45 homolog

The Human Phenotype Ontology links 13 traits to VPS45, 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
Extramedullary hematopoiesis	Always
Low blood neutrophil count	Always
Low number of red blood cells or hemoglobin	Always
Low platelet count	Always
Decreased blood leukocyte number	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Enlarged liver	Always

Abnormal cellular phenotype

Trait	How often it is seen
Increased antibody level in blood	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Enlarged kidney	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Always

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

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 VPS45 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test