Traits

Traits linked to MMP14

matrix metallopeptidase 14

The Human Phenotype Ontology links 43 traits to MMP14, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized osteoporosis	Always
Hunched back	Always
Arthritis	Very often (80–99%)
Breakdown of bone	Very often (80–99%)
Disease of the joints	Very often (80–99%)
Osteopenia	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Abnormal vertebral body morphology	Often (30–79%)
Broad collarbone	Often (30–79%)
Increased susceptibility to fractures	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Double outlet right ventricle	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Always
Abnormal facial shape	Very often (80–99%)
Broad head shape	Often (30–79%)
Sclerotic cranial sutures	Often (30–79%)
Abnormality of the eye region	Sometimes (5–29%)
Gum enlargement	Not recorded

Abnormality of limbs

Trait	How often it is seen
Carpal osteolysis	Always
Osteolysis involving tarsal bones	Always
Abnormal shape of hand	Very often (80–99%)
Osteolysis involving bones of the lower limbs	Very often (80–99%)
Osteolysis involving bones of the upper limbs	Very often (80–99%)
Wide long bones of hand	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Very often (80–99%)
Firm lump under the skin	Often (30–79%)
Localized skin lesion	Often (30–79%)
Pterygium	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Nodular goiter	Sometimes (5–29%)
Premature breast development	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cat eye	Sometimes (5–29%)
Papilledema	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Polycystic ovaries	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Type 1 diabetes	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 MMP14 and how often each is seen. Find out more at hpo.jax.org.

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