Traits

Traits linked to MMP21

matrix metallopeptidase 21

The Human Phenotype Ontology links 21 traits to MMP21, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal aortic valve morphology	Sometimes (5–29%)
Abnormal tricuspid valve morphology	Sometimes (5–29%)
Heart tip and four chambers point towards right side of body	Sometimes (5–29%)
Mitral atresia	Sometimes (5–29%)
Right aortic arch	Sometimes (5–29%)
Transposition of the great arteries	Sometimes (5–29%)
Underdeveloped lung artery	Sometimes (5–29%)
Abnormal cardiac septum morphology	Not recorded
All organs on wrong side of body	Not recorded
An opening in the wall separating the top two chambers of the heart	Not recorded
Common atrium	Not recorded
Hole in center of heart	Not recorded
Interrupted aortic arch	Not recorded
Interrupted inferior vena cava with azygous continuation	Not recorded
Multiple small spleens	Not recorded
Pulmonary artery atresia	Not recorded
Small right heart chamber	Not recorded
Total anomalous pulmonary venous return	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Intestinal malrotation	Not recorded

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Not recorded

Growth abnormality

Trait	How often it is seen
Heterotaxy	Not recorded

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 MMP21 and how often each is seen. Find out more at hpo.jax.org.

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