Traits

Traits linked to PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

The Human Phenotype Ontology links 97 traits to PLOD1, by body system: features seen in people with one of the gene's rare conditions.

PLOD1

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Flattened vertebrae	Always
Kyphoscoliosis	Always
Low muscle tone	Always
Muscle weakness	Always
Osteopenia	Always
Thin ribs	Always
Low muscle tone, in neonatal onset	Very often (80–99%)
Osteoporosis	Very often (80–99%)
Thoracic kyphoscoliosis	Very often (80–99%)
Hypermobility of all joints	Often (30–79%)
Joint dislocation	Often (30–79%)
Joint subluxation	Often (30–79%)
Thoracic scoliosis	Often (30–79%)
Congenital kyphoscoliosis	Sometimes (5–29%)
Decreased muscle mass	Sometimes (5–29%)
Distal joint hypermobility	Sometimes (5–29%)
EMG: myopathic abnormalities	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Generalized muscle weakness	Sometimes (5–29%)
Muscle fiber degeneration	Sometimes (5–29%)
Partial shoulder dislocation	Sometimes (5–29%)
Progressive congenital scoliosis	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormally indented hip sockets	Always
Club feet	Often (30–79%)
Dislocated hip since birth	Often (30–79%)
Hip dislocation	Often (30–79%)
Congenital bilateral hip dislocation	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Limb muscle weakness	Sometimes (5–29%)
Partial hip dislocation	Sometimes (5–29%)
Dropped arches	Rarely (1–4%)
Elbow flexion contracture	Rarely (1–4%)
Wrist drop	Rarely (1–4%)
Excessive wrinkled skin of palms and soles	Not recorded
Long slender fingers	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Always
Cornea of eye less than 10mm in diameter	Always
Drooping upper eyelid	Always
Close sighted	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Scleral rupture	Sometimes (5–29%)
Cross-eyed	Rarely (1–4%)
Blindness	Not recorded
Bulging cornea	Not recorded

Abnormality of the integument

Trait	How often it is seen
Follicular hyperkeratosis	Always
Soft skin	Always
Fragile skin	Very often (80–99%)
Hyperelastic skin	Very often (80–99%)
Sunken or indented skin due to damage	Often (30–79%)
Poor wound healing	Sometimes (5–29%)
Widened atrophic scar	Sometimes (5–29%)
Excessive wrinkled skin	Not recorded
Molluscoid pseudotumors	Not recorded
Thin skin	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Aneurysm	Sometimes (5–29%)
Arterial dissection	Sometimes (5–29%)
Arterial rupture	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Sometimes (5–29%)
Abnormal vein	Rarely (1–4%)
Cardiac failure	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Downward slanting of the opening between the eyelids	Always
Eye folds	Often (30–79%)
Monobrow	Sometimes (5–29%)
High, narrow palate	Rarely (1–4%)
Triangular head shape	Rarely (1–4%)
Dental crowding	Not recorded
Depressed nasal bridge	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Delayed motor skills	Very often (80–99%)
Diminished deep tendon reflex	Sometimes (5–29%)
Impaired vibratory sensation	Sometimes (5–29%)
Abnormality of the brachial nerve plexus	Rarely (1–4%)
Clumsy tandem walking	Rarely (1–4%)
Peripheral axonal neuropathy	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio	Always
Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts	Always
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Very often (80–99%)
Bleeding tendency	Sometimes (5–29%)
Gastrointestinal bleeding	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Not recorded
Premature rupture of membranes	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Stiff lung or chest wall causing decreased lung volume	Rarely (1–4%)
Respiratory function loss	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate tall stature	Often (30–79%)
Tall stature	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bladder diverticulum	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Rarely (1–4%)

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 PLOD1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test