Traits

Traits linked to PSENEN

presenilin enhancer, gamma-secretase subunit

The Human Phenotype Ontology links 30 traits to PSENEN, 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
Progressive reticulate hyperpigmentation	Very often (80–99%)
Freckles in groin region	Often (30–79%)
Hyperkeratosis	Often (30–79%)
Abnormal fingernails	Sometimes (5–29%)
Digital pitting scar	Sometimes (5–29%)
Erythematous papule	Sometimes (5–29%)
Hyperkeratotic papule	Sometimes (5–29%)
Hyperpigmented papule	Sometimes (5–29%)
Hyperpigmented skin patches	Sometimes (5–29%)
Itching	Sometimes (5–29%)
Epidermoid cyst	Rarely (1–4%)
Generalized abnormality of skin	Rarely (1–4%)
Hypopigmented macule	Rarely (1–4%)
Keratoacanthoma	Rarely (1–4%)
Mixed hypo- and hyperpigmentation of the skin	Rarely (1–4%)
Skin vesicle	Rarely (1–4%)
Follicular hyperkeratosis	Not recorded
Squamous cell carcinoma	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Acne inversa	Always
Chronic furunculosis	Always
Recurrent cutaneous abscess formation	Always
Perifolliculitis	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the hand	Sometimes (5–29%)
Palmar pits	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Penile freckling	Sometimes (5–29%)
Scrotal hyperpigmentation	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the neck	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Anal margin squamous cell carcinoma	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Heat intolerance	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 PSENEN 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