Traits

Traits linked to SHARPIN

SHANK associated RH domain interactor

The Human Phenotype Ontology links 12 traits to SHARPIN, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Always
High ESR	Always
Increased hepatic glycogen content	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Always
Rectal bleeding	Often (30–79%)

Abnormality of the cardiovascular system

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

Abnormality of the digestive system

Trait	How often it is seen
Colitis	Often (30–79%)
Enlarged liver	Often (30–79%)

Abnormality of head or neck

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

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	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 SHARPIN 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