Traits

Traits linked to SASH1

SAM and SH3 domain containing 1

The Human Phenotype Ontology links 14 traits to SASH1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Hair loss	Always
Hyperpigmented skin patches	Always
Poor nail formation	Always
Squamous cell carcinoma	Always
Dry skin	Often (30–79%)
Freckling	Often (30–79%)
Hypomelanotic macule	Often (30–79%)
Scaling skin	Often (30–79%)
Hyperpigmented/hypopigmented macules	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Absence of scalp hair	Always
Early tooth loss	Often (30–79%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Multinodular goiter	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 SASH1 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