Traits

Traits linked to WRN

WRN RecQ like helicase

The Human Phenotype Ontology links 80 traits to WRN, 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
Poor nail formation	Always
Premature aged appearance	Always
Premature graying of hair	Always
Prematurely aged appearance	Always
Skin degeneration	Always
Abnormal hair whorl	Very often (80–99%)
Flattened and twisted hair	Very often (80–99%)
White part of hair above forehead	Very often (80–99%)
Absent/small skin	Often (30–79%)
Hyperkeratosis	Often (30–79%)
Open skin sore	Often (30–79%)
Skin calcification	Often (30–79%)
Tight skin	Often (30–79%)
Acral lentiginous melanoma	Sometimes (5–29%)
Cutaneous melanoma	Sometimes (5–29%)
Squamous cell carcinoma	Sometimes (5–29%)
Scleroderma	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low solidness and mass of the bones	Always
Lumbago	Always
Osteoporosis	Always
Abnormality of the chest	Very often (80–99%)
Bone cell cancer	Very often (80–99%)
Loss of fat tissue in localized area	Very often (80–99%)
Calcium deposits in joints	Often (30–79%)
Inability to make and keep healthy fat tissue	Often (30–79%)
Increased bone mineral density	Often (30–79%)
Muscle degeneration	Often (30–79%)
Joint stiffness	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Premature hardening of arteries	Very often (80–99%)
Cardiac failure	Often (30–79%)
Heart attack	Often (30–79%)
Narrowing and hardening of arteries	Often (30–79%)
Narrowing of lung artery	Often (30–79%)
Telangiectasia of the skin	Often (30–79%)
Abnormality of the cerebral blood vessels	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
High blood sugar	Always
Increased plasma triglycerides	Always
Body fails to respond to insulin	Often (30–79%)
Noninsulin-dependent diabetes	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Absence of scalp hair	Always
Beaked nose	Always
Bird-like facial appearance	Always
Sparse scalp hair	Very often (80–99%)
Narrow face	Often (30–79%)
Mouth tumor	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the testis	Often (30–79%)
Absent/small testes	Often (30–79%)
Decreased fertility	Often (30–79%)
Kidney cancer	Sometimes (5–29%)
Ovarian cancer	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Achilles tendon calcification	Always
Plantar hyperkeratosis	Always
Rocker bottom foot	Often (30–79%)
Small hand	Often (30–79%)

Abnormal tissue mass

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

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Retina degeneration	Very often (80–99%)
Abnormal retinal pigmentation	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated hemoglobin A1c	Always
Myelodysplasia	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Gastrointestinal carcinoma	Sometimes (5–29%)
Small intestine tumor	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Very often (80–99%)
Thyroid carcinoma	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
High pitched voice	Always
Noncancerous growth of membranes covering brain	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Lung cancer	Sometimes (5–29%)
Softening of voice box tissue	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Slender build	Very often (80–99%)

Abnormality of the breast

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

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Body ache	Always

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

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