Traits

Traits linked to COL5A2

collagen type V alpha 2 chain

The Human Phenotype Ontology links 74 traits to COL5A2, 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
Soft skin	Always
Sunken or indented skin due to damage	Always
Cigarette-paper scars	Very often (80–99%)
Fragile skin	Very often (80–99%)
Hyperelastic skin	Very often (80–99%)
Molluscoid pseudotumors	Very often (80–99%)
Soft, doughy skin	Very often (80–99%)
Stretch marks	Very often (80–99%)
Subcutaneous spheroids	Very often (80–99%)
Poor wound healing	Often (30–79%)
Persistent blue color of hands or feet	Sometimes (5–29%)
Piezogenic pedal papules	Sometimes (5–29%)
Prematurely aged appearance	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Hypermobility of all joints	Very often (80–99%)
Hernia	Often (30–79%)
Joint dislocation	Often (30–79%)
Low muscle tone	Often (30–79%)
Muscle spasm	Often (30–79%)
Muscle weakness	Often (30–79%)
Osteopenia	Often (30–79%)
Recurrent joint dislocation	Often (30–79%)
Degenerative joint disease	Sometimes (5–29%)
Limb pain	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Shoulder dislocation	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart valve physiology	Sometimes (5–29%)
Arterial dissection	Sometimes (5–29%)
Arterial rupture	Sometimes (5–29%)
Arteriovenous fistula	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Decrease in blood pressure upon standing up	Rarely (1–4%)
Mitral regurgitation	Rarely (1–4%)
Mitral valve prolapse	Rarely (1–4%)
Tricuspid valve prolapse	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Chronic constipation	Often (30–79%)
Nausea	Often (30–79%)
Vomiting	Often (30–79%)
Incisional hernia	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Stomach hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormal feet structure	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Dislocated radial head	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Phalangeal dislocation	Sometimes (5–29%)
Dislocated hip since birth	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Pulp stones	Often (30–79%)
Recurrent sinus disease	Often (30–79%)
Abnormality of the jaw joint	Sometimes (5–29%)
Baggy eyes	Sometimes (5–29%)
Blepharochalasis	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Sometimes (5–29%)
Ecchymosis	Sometimes (5–29%)
Prolonged bleeding time	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bladder diverticulum	Sometimes (5–29%)
Cervical insufficiency	Sometimes (5–29%)
Sagging uterus	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Sometimes (5–29%)
Premature rupture of membranes	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Sometimes (5–29%)
Headache	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Joint pain	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormal cornea morphology	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Coughing up blood	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Joint swelling	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 COL5A2 and how often each is seen. Find out more at hpo.jax.org.

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