Traits

Traits linked to KEAP1

kelch like ECH associated protein 1

The Human Phenotype Ontology links 14 traits to KEAP1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Cancer starting in small tubes in kidneys	Often (30–79%)
Ovarian cancer	Often (30–79%)
Sertoli cell neoplasm	Often (30–79%)
Testicular seminoma	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Multinodular goiter	Always
Thyroid carcinoma	Rarely (1–4%)
Overactive thyroid	Not recorded

Abnormality of the integument

Trait	How often it is seen
Basal cell carcinoma	Often (30–79%)
Pilomatrixoma	Rarely (1–4%)

Abnormal tissue mass

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

Abnormality of the digestive system

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

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

Abnormality of the respiratory system

Trait	How often it is seen
Pleuropulmonary blastoma	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 KEAP1 and how often each is seen. Find out more at hpo.jax.org.

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