Traits

Traits linked to ESR1

estrogen receptor 1

The Human Phenotype Ontology links 39 traits to ESR1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Always
Increased circulating osteocalcin level	Always
Increased serum estradiol	Always
Abnormality of circulating hormone level	Very often (80–99%)
Absence of pubertal development	Very often (80–99%)
Absence of secondary sex characteristics	Very often (80–99%)
Increased circulating gonadotropin level	Very often (80–99%)
Abnormal testosterone level	Not recorded
Adrenal abnormalities	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Osteopenia	Always
Delayed maturation of end part of long bone	Very often (80–99%)
Marked delay in bone age	Very often (80–99%)
Osteoporosis	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase of bone origin	Always
Elevated tissue non-specific alkaline phosphatase	Often (30–79%)
Glucose intolerance	Often (30–79%)
Hyperinsulinemia	Often (30–79%)
Impaired glucose tolerance	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Polycystic ovaries	Always
Primary amenorrhea	Always
Small uterus	Always
Enlarged ovaries with cysts	Very often (80–99%)

Abnormality of the breast

Trait	How often it is seen
Absent breast	Always
Underdeveloped breasts	Very often (80–99%)
Breast cancer	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Intermittent abdominal pain	Often (30–79%)
Nausea	Not recorded
Vomiting	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Fear of loud sounds	Not recorded
Migraine with aura	Not recorded
Migraine without aura	Not recorded

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Often (30–79%)
Abnormality of the pubic hair	Not recorded

Growth abnormality

Trait	How often it is seen
General overgrowth	Very often (80–99%)
Tall stature	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Plaque build-up in arteries supplying blood to heart	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Extreme sensitivity of the eyes to light	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Acne	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 ESR1 and how often each is seen. Find out more at hpo.jax.org.

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