Traits

Traits linked to COL14A1

collagen type XIV alpha 1 chain

The Human Phenotype Ontology links 25 traits to COL14A1, 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
Abnormal epidermal morphology	Very often (80–99%)
Hyperkeratotic papule	Very often (80–99%)
Hypergranulosis	Often (30–79%)
Orthokeratosis	Often (30–79%)
Thickening of upper layer of skin	Often (30–79%)
Verrucous papule	Sometimes (5–29%)
Basal cell carcinoma	Rarely (1–4%)
Poor nail formation	Rarely (1–4%)
Squamous cell carcinoma	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Esophageal tumor	Sometimes (5–29%)
Adenocarcinoma of the colon	Rarely (1–4%)
Adenocarcinoma of the small intestine	Rarely (1–4%)
Pancreatic adenocarcinoma	Rarely (1–4%)
Stomach cancer	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Very often (80–99%)
Thickening of the outer layer of the skin of the palms and soles	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cancer starting in small tubes in kidneys	Rarely (1–4%)
Prostate cancer	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Sometimes (5–29%)

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

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

Abnormality of the respiratory system

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

Constitutional symptom

Trait	How often it is seen
Pain	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 COL14A1 and how often each is seen. Find out more at hpo.jax.org.

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