Features include always present findings: Increased circulating osteocalcin level, Elevated alkaline phosphatase of bone origin, Hypoplasia of the uterus, and Delayed skeletal maturation and others. 15 total HPO annotations.

ESR1 encodes estrogen receptor 1 (595 aa). Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Highest expression in Cervix Endocervix (88.9 TPM) and Uterus (60.7 TPM).

Estrogen resistance syndrome is associated with mutations in the ESR1 gene on chromosome 6.

ESR1 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Kinase, Nuclear Hormone Receptor, Transcription Factor, and Transcription Factor Complex categories) with score 0.7.

Genetic testing for ESR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for estrogen resistance syndrome has been reported in the published literature.

Phenotype severity distribution: 11 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for estrogen resistance syndrome.

56 publications have been identified in PubMed for estrogen resistance syndrome. Research spans Basic Science / Preclinical (54%), Review / Meta-Analysis (21%), and Case Report / Case Series (7%).