Traits

Traits linked to ADAM17

ADAM metallopeptidase domain 17

The Human Phenotype Ontology links 32 traits to ADAM17, 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
Paronychia	Always
Thick nail	Always
Chronic monilial nail infection	Often (30–79%)
Generalized abnormality of skin	Often (30–79%)
Scaling skin	Often (30–79%)
Afro-textured hair	Not recorded
Brittle hair	Not recorded
Patchy baldness	Not recorded
Slow-growing hair	Not recorded
Sparse hair	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Bloody diarrhea	Always
Duodenitis	Always
Anal fissure	Often (30–79%)
Perianal rash	Often (30–79%)
Recurrent gastroenteritis	Often (30–79%)
Villous atrophy	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Inflammation of eyelids	Always
Chapped lip	Often (30–79%)
Horizontal eyebrow	Often (30–79%)
Slow-growing scalp hair	Often (30–79%)
Sparse scalp hair	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Perianal erythema	Always
Perioral erythema	Always
Redness of skin or mucous membrane	Often (30–79%)
Left ventricular hypertrophy	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Pimple	Always
Red scaly skin caused by inflammatory skin disease	Always
Psoriasiform dermatitis	Often (30–79%)
Recurrent bacterial skin infections	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgE concentration	Always

Abnormality of the ear

Trait	How often it is seen
Swimmer's ear	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	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 ADAM17 and how often each is seen. Find out more at hpo.jax.org.

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