Traits

Traits linked to LRP1

LDL receptor related protein 1

The Human Phenotype Ontology links 38 traits to LRP1, 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
Chicken skin	Always
Comedo	Always
Papule	Always
Abnormal epidermal morphology	Very often (80–99%)
Hypoplastic pilosebaceous units	Very often (80–99%)
Skin pit	Very often (80–99%)
Sunken or indented skin due to damage	Very often (80–99%)
Follicular hyperkeratosis	Often (30–79%)
Hyperkeratotic papule	Often (30–79%)
Itching	Often (30–79%)
Progressive alopecia	Often (30–79%)
Neurofibroma	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)
Abnormal perifollicular morphology	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Absent eyelashes	Always
Sparse eyebrow	Always
Abnormality of the cheek	Very often (80–99%)
Abnormality of the chin	Often (30–79%)
Hair loss on scalp from scarring condition	Often (30–79%)
Pits around the ear	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Abnormality of the forehead	Sometimes (5–29%)
Abnormality of the neck	Sometimes (5–29%)
Inflammation of eyelids	Sometimes (5–29%)
Pink eye	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Sometimes (5–29%)
Dislocated hip since birth	Not recorded
Hypoplastic acetabulae	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Always
Blushed cheeks	Often (30–79%)
Heart block	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Corneal dystrophy	Sometimes (5–29%)
Extreme sensitivity of the eyes to light	Sometimes (5–29%)
Increased tears	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Folliculitis	Often (30–79%)
Baby eczema	Sometimes (5–29%)

Abnormality of the nervous system

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

Constitutional symptom

Trait	How often it is seen
Pain	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 LRP1 and how often each is seen. Find out more at hpo.jax.org.

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